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Journal articles on the topic 'Chromosome aberrations'
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1
Eidelman, Yuri, Ilya Salnikov, Svetlana Slanina, and Sergey Andreev. "Chromosome Folding Promotes Intrachromosomal Aberrations under Radiation- and Nuclease-Induced DNA Breakage." International Journal of Molecular Sciences 22, no. 22 (November 10, 2021): 12186. http://dx.doi.org/10.3390/ijms222212186.
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The long-standing question in radiation and cancer biology is how principles of chromosome organization impact the formation of chromosomal aberrations (CAs). To address this issue, we developed a physical modeling approach and analyzed high-throughput genomic data from chromosome conformation capture (Hi-C) and translocation sequencing (HTGTS) methods. Combining modeling of chromosome structure and of chromosomal aberrations induced by ionizing radiation (IR) and nuclease we made predictions which quantitatively correlated with key experimental findings in mouse chromosomes: chromosome contact maps, high frequency of cis-translocation breakpoints far outside of the site of nuclease-induced DNA double-strand breaks (DSBs), the distinct shape of breakpoint distribution in chromosomes with different 3D organizations. These correlations support the heteropolymer globule principle of chromosome organization in G1-arrested pro-B mouse cells. The joint analysis of Hi-C, HTGTS and physical modeling data offers mechanistic insight into how chromosome structure heterogeneity, globular folding and lesion dynamics drive IR-recurrent CAs. The results provide the biophysical and computational basis for the analysis of chromosome aberration landscape under IR and nuclease-induced DSBs.
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Xharra, S., E. Behluli, A. Moder, H. Nefic, R. Hadziselimovic, and G. Temaj. "Association of X Chromosome Aberrations with Male Infertility." Acta Medica Bulgarica 48, no. 4 (November 1, 2021): 69–72. http://dx.doi.org/10.2478/amb-2021-0051.
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Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.
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Negoto, Tetsuya, Hidenobu Yoshitake, Aya Hashimoto, Mayuko Moritsubo, Takuya Furuta, Kiyohiko Sakata, Hideo Nakamura, and Motohiro Morioka. "10049-GGE-3 CHARACTERISTICS OF CHROMOSOMAL ABERRATIONS IN GLIOMAS AND THEIR IMPACT ON RECURRENCE." Neuro-Oncology Advances 5, Supplement_5 (December 1, 2023): v7. http://dx.doi.org/10.1093/noajnl/vdad141.025.
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Abstract INTRODUCTION Chromosome instability is the inability to evenly distribute sister chromatids during mitosis, which leads to chromosomal numerical/structural abnormalities and increases the genetic heterogeneity of the tumor. In this study, we investigated the association between chromosome aberration characteristics and recurrence in clinical specimens of gliomas using the Spectral Karyotyping. METHODS Chromosome karyotypes were analyzed for a total of 121 cells from 26 gliomas (Glioblastoma 14, PXA 3, Astrocytoma 5, Oligodendroglioma 3, Ependymoma 1, 18 primary cases and 8 recurrent cases) removed at our hospital. In addition, each case was quantitatively analyzed for numerical aberrations/ cell (AS: Aneuploidy score), structural abnormalities/ cell (SS: Structural abnormality score), and karyotype concordance rate between cells /case (HS: Heterogeneity Score) were quantitatively analyzed. RESULTS In the analysis of all cases, numerical aberrations in chromosomes X and 7 (21.5%/16.9%) and structural aberrations in chromosomes 1, 4, and 5 (>10.0%) were highly prevalent, with structural aberrations in large chromosomes and numerical aberrations in small chromosomes. On the other hand, quantitative analysis showed that the mean for the first occurrence (18 cases); AS: 2.22±0.94/ SS: 1.48±0.96/ HS: 22.2±7.41, and for the recurrence (8 cases); AS: 4.68±1.75/ SS: 7.50±1.44/ HS: 55.0±11.1, indicating that numerical and structural abnormalities were more common in the recurrent lesions The recurrent lesions showed more numerical and structural abnormalities and higher intra-tumor heterogeneity. In addition, in cases in which the primary/recurrent lesions were analyzed in pairs, the frequency of numerical and structural chromosomal abnormalities was higher in the recurrent lesions. DISCUSSION This study clarified the characteristics of chromosomal aberrations in each pathological classification of gliomas and suggested the involvement of chromosomal instability in the recurrence process. We look forward to further clarification of the pathogenesis of gliomas with a focus on chromosomal instability.
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Heng, Henry H. Q., Guo Liu, Steven Bremer, Karen J. Ye, Joshua Stevens, and Christine J. Ye. "Clonal and non-clonal chromosome aberrations and genome variation and aberration." Genome 49, no. 3 (March 1, 2006): 195–204. http://dx.doi.org/10.1139/g06-023.
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The theoretical view that genome aberrations rather than gene mutations cause a majority of cancers has gained increasing support from recent experimental data. Genetic aberration at the chromosome level is a key aspect of genome aberration and the systematic definition of chromosomal aberrations with their impact on genome variation and cancer genome evolution is of great importance. However, traditionally, efforts have focused on recurrent clonal chromosome aberrations (CCAs). The significance of stochastic non-clonal chromosome aberrations (NCCAs) is discussed in this paper with emphasis on the simple types of NCCAs that have until recently been considered "non-significant background". Comparison of various subtypes of transitional and late-stage CCAs with simple and complex types of NCCAs has uncovered a dynamic relationship among NCCAs, CCAs, overall genomic instability, and karyotypic evolution, as well as the stochastic nature of cancer evolution. Here, we review concepts and methodologies to measure NCCAs and discuss the possible causative mechanism and consequences of NCCAs. This study raises challenging questions regarding the concept of cancer evolution driven by stochastic chromosomal aberration mediated genome irregularities that could have repercussions reaching far beyond cancer and organismal genomes.Key words: clonal chromosome aberration (CCA), transitional CCA, non-clonal chromosome aberration (NCCA), karyotype, cancer evolution, genome aberration and variation.
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Battaglia, Agatino, and Renzo Guerrini. "Chromosomal disorders associated with epilepsy." Epileptic Disorders 7, no. 3 (September 2005): 181–92. http://dx.doi.org/10.1684/j.1950-6945.2005.tb00120.x.
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Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns. The analysis of electro‐clinical patterns associated with chromosomal aberrations is a major tool in the identification of epilepsy susceptibility genes. Advances in molecular cytogenetic techniques will certainly increase the diagnostic yield, and an increasing number of individuals previously diagnosed as having “cryptogenic” epilepsy will turn out to have an underlying chromosomal aberration. We review the types of seizures, EEG findings, and their natural history in the chromosomal disorders that are consistently associated with epilepsy.
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Yahaya, Muhammad Sanusi, Mohd Shahrom Salisi, Nur Mahiza Md Isa, Goh Yong Meng, and Abdwahid Haron. "Prevalence of chromosome anomalies in a deer farm with fertility decline in Malaysia." Future Science OA 6, no. 6 (July 1, 2020): FSO580. http://dx.doi.org/10.2144/fsoa-2020-0037.
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Background: A number of factors are known to reduce fertility rate in animals and one of the important categories of such factors is chromosome anomalies. They can occur with or without causing phenotypic abnormalities on animals; in some cases, they may directly affect meiosis, gametogenesis and the viability of conceptus. In many instances, balanced structural rearrangements can be transmitted to offspring, affecting fertility in subsequent generations. Aim: This work investigated the occurrence of chromosome aberrations in Rusa timorensis, Rusa unicolor and Axis axis raised in a nucleus deer farm in Malaysia with a history of declining fertility of unknown origin. Materials & methods: Blood samples were collected from 60 animals through venipuncture, cultured for 72 h and arrested at metaphase. SmartType® and Ideokar® software were used to karyotype the chromosomes. Results: We found 15 out of the 60 animals screened from both sexes harbor some form of chromosome aberration. Chromosomal aberrations exist at the rate of 25% and may not be unconnected with the observed reduced fertility on the farm. Further investigations should be carried out, especially on the offspring of the studied animals to transmission of these aberrations. The animals that are confirmed to transmit the chromosomal aberrations should be culled to arrest the propagation of their abnormalities.
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Iannuzzi, Alessandra, Viviana Genualdo, Angela Perucatti, Alfredo Pauciullo, Giovanna Varricchio, Domenico Incarnato, Donato Matassino, and Leopoldo Iannuzzi. "Fatal Outcome in a Newborn Calf Associated with Partial Trisomy 25q and Partial Monosomy 11q, 60,XX,der(11)t(11;25)(q11;q14∼21)." Cytogenetic and Genome Research 146, no. 3 (2015): 222–29. http://dx.doi.org/10.1159/000438973.
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A newborn calf of the Agerolese cattle breed underwent clinical cytogenetic investigation because of hyperflexion of the forelimbs, red eyes and the inability to stand. Anamnesis revealed that the mother, phenotypically normal, carried a chromosomal aberration. The newborn died after 2 weeks, and no remarkable alterations were found by the veterinarian on postmortem examination. The mother was a carrier of a reciprocal balanced translocation rcp(11;25)(q11,q14∼21) detected after a cytogenetic investigation in 2011; however, the analysis of the newborn revealed a different chromosomal aberration with partial trisomy of chromosome 25 and partial monosomy of chromosome 11. In fact, the results showed both chromosomes 25, one chromosome 11 and only one long derivative chromosome (der11). FISH analysis, performed using BAC clones, confirmed the chromosomes and their regions involved. Finally, both the localization of the breakpoints on band q11 (centromere) of chromosome 11 and band q14-21 of chromosome 25, and the complete loss of the der25 identified the aberration as an unbalanced translocation 60,XX,der(11)t(11;25)(q11;q14∼21). A comparison with human chromosomes was also performed to search for similarities and possible genes involved in order to study their effects, thus extending the knowledge of these aberrations by case reports.
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Marisavljevic, Dragomir, Milena Pantic-Ludoski, Angelina Novak, and Vesna Djordjevic. "Aberrations of chromosome 8 in myelodysplastic syndromes: Clinical and biological significance." Srpski arhiv za celokupno lekarstvo 134, no. 9-10 (2006): 404–7. http://dx.doi.org/10.2298/sarh0610404m.
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Introduction: Rearrangements of any single chromosome in human karyotype have been reported in patients with pMDS. Objective: To examine the role of aberrations of chromosome 8 in pathogenesis, clinical presentation and progression of myelodysplastic syndromes. Method: Cytogenetic analysis of bone marrow cells was carried out by direct method and by means of 24- and/or 48-hour unstimulated cell culture. Chromosomes were obtained by modified method of HG-bands. Results: On presentation, 109 out of 271 successfully karyotyped patients (40,2%) had abnormal karyotypes. Among them, 22 patients (10.9%) had aberrations of chromosome 8. Ten patients had trisomy 8 as "simple" aberration whilst additional three cases had trisomy 8 included in "complex" karyotypes (?3 chromosomes). Cases with constitutional trisomy 8 mosaicism (CT8M) were excluded using the chromosome analyses of PHA-stimulated blood cultures. On the contrary, monosomy (seven patients) or deletion of chromosome 8 (two patients) were exclusively found in "complex" karyotypes. During prolonged cytogenetic follow-up, trisomy 8 was not recorded in evolving karyotypes. In contrast, trisomy 8 disappeared in two cases during subsequent cytogenetic studies, i.e. 23 and 72 months from diagnosis, accompanied in one patient with complete hematological remission. No difference regarding age, sex, cytopenia, blood and marrow blast count or response to treatment was found between patients with trisomy 8 as the sole aberration compared to those with normal cytogenetics. Median survival of patients with trisomy 8 as the sole aberration was 27 months, as compared to 32 months in patients with normal cytogenetics (p=0.468), whilst median survival of patients with aberrations of chromosome 8 included in "complex" karyotypes was only 4 months. Conclusion: Aberrations of chromosome 8 are common in patients with pMDS. The presence of a clone with trisomy 8 is not always the sign of disease progression or poor prognosis in MDS patients, in contrast to clones with aberrations of chromosome 8 manifesting the loss of genetic material.
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Schoch, Claudia, Susanne Schnittger, Wolfgang Kern, Torsten Haferlach, and Frank Dicker. "Immunostimulatory CpG-Oligonucleotide Activated Metaphase Cytogenetics Is Feasible in Routine Diagnostics of Chronic Lymphocytic Leukaemia and Reveals More Abnormalities Than Interphase FISH." Blood 106, no. 11 (November 16, 2005): 3252. http://dx.doi.org/10.1182/blood.v106.11.3252.3252.
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Abstract Genetic characterization of chronic lymphocytic leukemia (CLL) cells by fluorescence in situ hybridization (FISH) has identified genetic aberrations in 80% of CLL patients. In contrast, conventional metaphase cytogenetics detected chromosomal aberrations in only 40–50% of all cases. Immunostimulatory CpG-oligonucleotides (CpG-ODN) in combination with interleukin 2 (IL-2) have recently been reported to induce proliferation in CLL B cells. Therefore, we evaluated this stimulus for its efficacy in metaphase generation for the detection of chromosomal aberrations by cytogenetic banding techniques. In addition these results were compared with data obtained by interphase FISH. For metaphase induction 107 cells were cultured in growth medium with the CpG-ODN DSP30 and IL-2. After 2 days colchicine was added for another 24h before preparation. Of the 133 samples that were included in this study, all cases could be successfully analyzed by interphase FISH with a rate of 79% aberrations like deletions of chromosomes 13q (57%, in 38% as sole abnormality), 11q (17%), trisomy 12 (13%), 6q (7%), 17p (6%) and translocations involving 14q32 (4%). By FISH 55% of all samples showed a single aberration, 22% two aberrations and 2% 3 aberrations. In comparison, 126 cases (95%) could be successfully analyzed by cytogenetic banding techniques. 102 (81%) of the 126 samples showed chromosomal aberrations, which involved all different chromosomes. 9 cases with a normal karyotype in conventional cytogenetics revealed genetic aberrations by FISH. In all but 1 of these cases the aberrant clone represented < 30% of the cell population. In addition to the aberrations that were detected by the FISH probes, a substantial amount of other aberrations was revealed by chromosome banding analysis. Interestingly, 10 cases of a total of 27 cases without abnormalities detected by FISH displayed aberrations in chromosome analysis indicating that the true amount of CLL patients with aberrations exceeds 79%. Overall, 47 samples (37%) showed chromosomal aberrations in chromosome banding analysis in addition to FISH analysis. Compared to FISH analysis, which detected 2 cases with 3 aberrations, metaphase cytogenetics detected 22 cases with 3 or more unbalanced aberrations, which can be considered as a complex aberrant karyotype. Loss of p53 referred to as del(17p13) in FISH has attracted considerable attention, because of the poor clinical outcome of affected patients. In our study, all del(17p13) cases (n=7) displayed either a loss of the short arm of chromosome 17 (n=6) or a complete loss of chromosome 17 (n=1) indicating that chromosomal regions in addition to the p53 locus might be relevant for this phenotype. Furthermore, numerous recurrent aberrations have been identified in this study beyond the aberrations that are detected by FISH. Of note are gains of 2p and 3q, losses in 11q13 and gains in 11q23–25, gains in 13q31–34, gains of 17q21–25 and cases with trisomy 18 and 19, which occurred in parallel to trisomy 12. The results of the present study show that immunostimulatory CpG-oligonucleotides plus interleukin 2 are a simple and cheap stimulus for efficient metaphase induction in CLL. The rate of aberrations detected by conventional banding techniques was even slighty increased compared to FISH analysis, however, the complexity of cytogenetic aberrations is underestimated by FISH analysis in a large portion of CLL cases (37%).
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Pedersen-Bjergaard, J., M. Pedersen, D. Roulston, and P. Philip. "Different genetic pathways in leukemogenesis for patients presenting with therapy-related myelodysplasia and therapy-related acute myeloid leukemia." Blood 86, no. 9 (November 1, 1995): 3542–52. http://dx.doi.org/10.1182/blood.v86.9.3542.bloodjournal8693542.
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Development of myelodysplasia (MDS) with subsequent progression to acute myeloid leukemia (AML) is an example of the multistep process of malignant transformation in which each step often relates to genetic abnormalities that can be directly seen as chromosomal aberrations. Therapy-related MDS and AML (t-MDS and t-AML) may serve as an ideal model for a study of the genetic evolution of MDS and AML because chromosomal abnormalities are observed in most cases and because the disease is often diagnosed early due to a close patient follow-up. The cytogenetic characteristics at diagnosis were studied in 137 consecutive cases of t-MDS and t-AML, including 22 new cases, and correlated with the clinical characteristics and the course of the disease. Balanced translocations to chromosome bands 11q23 and 21q22 represent primary steps in pathways leading directly to overt t-AML. Specific chromosomal deletions or losses, on the other hand, represent primary or secondary events in alternative pathways leading to t-MDS with potential for subsequent transformation to overt t-AML. Loss of a whole chromosome 7 (-7) or deletion of its long arm (7q-) and deletion of the long arm of a chromosome 5 (5q-) were the most frequent primary abnormalities significantly related to t-MDS. Loss of a whole chromosome 5 (-5) was also a primary event, but surprisingly, was observed equally in t-MDS and in t-AML. Deletion of chromosome 13, including bands q13q14, was another less common primary aberration of t- MDS. Except for -7 and del(13q), these primary aberrations were most often observed together with secondary abnormalities. These included balanced aberrations involving band 3q26 and various deletions of chromosome 3, a gain of a whole chromosome 8, deletions of the short arm or loss of chromosomes 12 and 17, loss of a whole chromosome 18, and deletions of the short arm of chromosome 21. Deletions or loss or chromosomes 5 and 7 were significantly associated with previous therapy with alkylating agents (P = .002), and balanced translocations to chromosome bands 3q26, 11q23, and 21q22 were significantly associated with previous therapy with drugs targeting DNA-topoisomerase II (P < .00005). Other characteristic aberrations were not related to any specific type of therapy. The molecular changes believed to contribute to the development of t-MDS and t-AML have been identified for many of these chromosomal abnormalities.
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Friedl, Anna A., Markus Kiechle, Barbara Fellerhoff, and Friederike Eckardt-Schupp. "Radiation-Induced Chromosome Aberrations in Saccharomyces cerevisiae: Influence of DNA Repair Pathways." Genetics 148, no. 3 (March 1, 1998): 975–88. http://dx.doi.org/10.1093/genetics/148.3.975.
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Abstract Radiation-induced chromosome aberrations, particularly exchange-type aberrations, are thought to result from misrepair of DNA double-strand breaks. The relationship between individual pathways of break repair and aberration formation is not clear. By electrophoretic karyotyping of single-cell clones derived from irradiated cells, we have analyzed the induction of stable aberrations in haploid yeast cells mutated for the RAD52 gene, the RAD54 gene, the HDF1(=YKU70) gene, or combinations thereof. We found low and comparable frequencies of aberrational events in wildtype and hdf1 mutants, and assume that in these strains most of the survivors descended from cells that were in G2 phase during irradiation and therefore able to repair breaks by homologous recombination between sister chromatids. In the rad52 and the rad54 strains, enhanced formation of aberrations, mostly exchange-type aberrations, was detected, demonstrating the misrepair activity of a rejoining mechanism other than homologous recombination. No aberration was found in the rad52 hdf1 double mutant, and the frequency in the rad54 hdf1 mutant was very low. Hence, misrepair resulting in exchange-type aberrations depends largely on the presence of Hdf1, a component of the nonhomologous end-joining pathway in yeast.
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Li, Jianyong, Bing Xiao, Lijuan Chen, Yu Zhu, Wei Xu, and Hairong Qiu. "Whole Chromosome Painting and Multiplex Fluorescence In Situ Hybridization in Detecting Complex Chromosomal Aberrations in Myelodysplastic Syndromes." Blood 108, no. 11 (November 16, 2006): 4853. http://dx.doi.org/10.1182/blood.v108.11.4853.4853.
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Abstract Objective To explore the value of the technique of whole chromosome painting (WCP) and multiplex fluorescence in situ hybridization (M-FISH) in the detection of complex chromosomal aberrations (CCAs) of myelodysplastic syndromes (MDS). Methods M-FISH was used in seven MDS patients with CCAs detected by R-banding technique to refine CCAs, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH. Results In all cases, M-FISH confirmed all results of R-banding.The composition and origin of 6 kinds of marker chromosomes, 9 kinds of chromosomes with additional material undetermined and 5 kinds of derivative chromosomes undefined by CC were defined after M-FISH analysis; 4 kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations: aberrations involving chromosome 17 (5/7) and -5/5q- (4/7) were the two most frequent aberrations. Fluorescence flaring is a main factor leading to misinterpretations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP. Conclusions M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP helped us identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques M-FISH and WCP can unravel complex chromosomal aberrations more precisely.
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Zemanova, Zuzana, Kyra Michalova, Libuse Babicka, Lenka Pavlistova, Marie Jarosova, Milena Holzerova, Alexandra Oltova, et al. "Clinical Relevance of Complex Chromosomal Aberrations in Bone Marrow Cells of 107 Children with ETV6/RUNX1 Positive Acute Lymphoblastic Leukemia (ALL)." Blood 108, no. 11 (November 1, 2006): 2278. http://dx.doi.org/10.1182/blood.v108.11.2278.2278.
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Abstract Cryptic translocation t(12;21)(p13;q22) which give origin to the ETV6/RUNX1 hybrid gene can be found by I-FISH in approximately 20–25% of children with B precursor ALL as the most frequent specific aberration. This translocation is generally associated with good outcome. Despite of its favorable prognostic value, late relapses may occur within this group of patients. One of the reasons could be the high instability of the genome of leukemic cells, which is manifested at the chromosomal level by additional aberrations and/or complex chromosomal rearrangements. The aim of the study was to evaluate the significance of the additional chromosomal aberrations for prognosis of children with ETV6/RUNX1 positive ALL. For the assessment of ETV6/RUNX1 fusion gene RT-PCR and/or double target interphase FISH with locus-specific probe (Abbott-Vysis, Des Plaines, Illinois, USA) were used (200 interphase nuclei analyzed, cut-off level 2.5% tested on controls, standard deviation ≤0.5%). Karyotypes were analyzed by conventional and molecular cytogenetic methods. Structural and/or complex chromosomal aberration were verified by FISH with whole chromosome painting probes (Cambio, Cambridge, UK) and/or by mFISH with the "24XCyte" probe kit (MetaSystems GmbH, Altlussheim, Germany). We performed prospective and retrospective study of 107 children with ALL and ETV6/RUNX1 fusion gene detected by RT-PCR and/or I-FISH. Patients were diagnosed between 1995 and 2006, age ranged between 15 months and 16.9 years (median 4.2 years). Relapse appeared in 19 children (17.8%), four of them died. In 64 children (59.8%) we found besides t(12;21)(p13;q22) additional chromosomal aberrations, the most frequently trisomy or tetrasomy of chromosome 21 (20 cases), deletion of non-translocated ETV6 allele (24 cases), deletion of 6q (7 cases) and/or rearrangements of the long arm of chromosome X (6 cases). Complex karyotypes were identified in 38 children (35.5%). In twelve of them variant translocations of chromosomes 12 and 21 with other partners were observed. Event-free survival (EFS) was significantly shorter in patients with additional structural and/or complex aberrations in ETV6/RUNX1 positive cells (p=0.01). In our cohort complex karyotypes indicated poor prognosis. Finding of complex chromosomal aberrations in leukemic cells is accompanied by higher risk of relapse even in those cases where the prognostically positive aberration is primarily present.
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Annisa, Hafidh Mulyawan, and Sunardi. "Evaluation of cytotoxicity and genotoxicity of the upstream Citarum River using Allium cepa assay." E3S Web of Conferences 495 (2024): 02001. http://dx.doi.org/10.1051/e3sconf/202449502001.
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Citarum River is the longest and largest river in West Java, and its existence greatly influences the lives of surrounding communities. Many industries are built around the area. It is important to assess the quality of the water, because certain heavy metal might leak to the body of water. This research aimed to investigate the mitotic index (MI), root length, frequency and types of chromosomal aberration which determined the cytotoxicity and genotoxicity by using Allium cepa L. as biomarker. The Completely randomized design with seven treatments and four replications were used. Observation was done 96 hours after onion bulb soaked in water. Data was analysed using Analysis of Variance and continued with Duncan post-hoc. Results showed that root length was not affected. Water samples were affecting the MI, frequency, and types of chromosomal aberration. The highest number of chromosome aberrations was recorded on Dayeuh Kolot stations and the most common type of aberration was stickiness. The chromosome aberrations observed were; stickiness, chromosome loss, chromosome bridge, chromosome break, binucleated cells, multipolar, micronuclei, and c-mitosis. Based on the results, Allium assay is beneficial to evaluate the level of cytotoxicity and genotoxicity in the upstream Citarum River.
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Ma, Xuhui, Qing Wang, Yanzhi Wang, Jieyun Ma, Nan Wu, Shuang Ni, Tengxiao Luo, et al. "Chromosome aberrations induced by zebularine in triticale." Genome 59, no. 7 (July 2016): 485–92. http://dx.doi.org/10.1139/gen-2016-0047.
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Chromosome engineering is an important approach for generating wheat germplasm. Efficient development of chromosome aberrations will facilitate the introgression and application of alien genes in wheat. In this study, zebularine, a DNA methylation transferase inhibitor, was successfully used to induce chromosome aberrations in the octoploid triticale cultivar Jinghui#1. Dry seeds were soaked in zebularine solutions (250, 500, and 750 μmol/L) for 24 h, and the 500 μmol/L treatment was tested in three additional treatment times, i.e., 12, 36, and 48 h. All treatments induced aberrations involving wheat and rye chromosomes. Of the 920 cells observed in 67 M1 plants, 340 (37.0%) carried 817 aberrations with an average of 0.89 aberrations per cell (range: 0–12). The aberrations included probable deletions, telosomes and acentric fragments (49.0%), large segmental translocations (28.9%), small segmental translocations (17.1%), intercalary translocations (2.6%), long chromosomes that could carry more than one centromere (2.0%), and ring chromosomes (0.5%). Of 510 M2 plants analyzed, 110 (21.6%) were found to carry stable aberrations. Such aberrations included 79 with varied rye chromosome numbers, 7 with wheat and rye chromosome translocations, 15 with possible rye telosomes/deletions, and 9 with complex aberrations involving variation in rye chromosome number and wheat–rye translocations. These indicated that aberrations induced by zebularine can be steadily transmitted, suggesting that zebularine is a new efficient agent for chromosome manipulation.
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Kozoviy, Ruslan. "Frequency and Spectrum of Chromosomal Aberrations, Acrocentric Chromosome Associations Among Long Livers with Arterial Hypertension and Osteoarthritis Residing in the Carpathian Region." Galician Medical Journal 24, no. 1 (March 27, 2017): 2017111. http://dx.doi.org/10.21802/gmj.2017.1.11.
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The frequency and spectrum of chromosomal aberrations, acrocentric chromosome associations among 264 long livers with arterial hypertension and osteoarthritis residing in the Carpathian region were analyzed. The obtained results were compared between patients with arterial hypertension and osteoarthritis, patients with arterial hypertension only, patients with osteoarthritis only and healthy individuals. The indices of the average frequency of chromosomal aberrations in all long livers was as follows: (2.82±0.27) in long livers with arterial hypertension and osteoarthritis and (2.17±0.47) in healthy individuals. In long livers with arterial hypertension and those with osteoarthritis, the frequency of chromosomal aberrations was 1.38 times higher compared to the control group (healthy long livers). The frequency of chromosomal abnormalities in long livers with arterial hypertension and those with osteoarthritis was (2.93±0.09) and (2.64±0.37), respectively.At the same time, there was observed the individual variability in chromosomal aberration frequency from 0.2 to 5%. In the spectrum of chromosomal aberrations, unstable chromosomal aberrations (dicentrics, rings, fragments) predominated in all long livers. When studying the index of acrocentric chromosome associations there was revealed that the difference in the indices between studied groups was identical to that when studying the frequency of chromosomal aberrations. In long livers with arterial hypertension and osteoarthritis, the index of the average number of acrocentric chromosome associations per cell was 1.07 times higher than that in long livers with arterial hypertension only, 1.32 times higher compared to that in long livers with osteoarthritis only and 1.75 times higher compared to healthy individuals (p<0.05).
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Boroňová, Iveta, Jarmila Bernasovská, and Janka Vašková. "Citogenetička analiza odabranih genetski uvjetovanih bolesti u istočnoj Slovačkoj." Collegium antropologicum 47, no. 3 (2023): 235–44. http://dx.doi.org/10.5671/ca.47.3.7.
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This work presents the results of cytogenetic analysis performed during the period 1990-2021. The work focuses on cytogenetic analysis of selected diseases that represent a serious medical and social problem in the Prešov region of eastern Slovakia. The analysis also included the determination of cytogenetic and molecular-genetic marker frequency related to selected clinical genetic diseases in a specified population of Roma ethnicity. Chromosome analysis confirmed a wide spectrum of chromosomal aberrations in patients with Down’s syndrome and Turner syndrome, revealing a spectrum of aberrations from monosomy X, isochromosome Xq, and deletions Xp to marker chromosomes. Chromosomal aberrations cause 5.5% of fertility disorders in couples, with numerical and structural chromosomal aberrations found in 2.1 and 3.4% respectively, revealing a risk finding for offspring of carriers of balanced translocations. Microdeletions, combined microdeletions (AZFb,c) and complete deletion of the AZF region of the Y chromosome were found in men diagnosed with azoospermia. In addition, pathological karyotypes were detected in men and women (13 and 10%). Another set of analyses in patients with onco-haematological diseases revealed presence of Philadelphia chromosome (Ph1) in 94.4% of patients with chronic myeloid leukaemia, complex translocation of chromosomes 8, 9, 22; mosaic karyotype of Ph1. Chromosomal aberrations in patients with myelodysplastic syndrome also included also atypical and as yet unpublished cytogenetic markers. Myeloproliferative diseases were detected in 28.3% of patients with heterogenous chromosomal aberrations. Revelations from cytogenetic analysis enable improvement in the efficiency of health care, diagnostics, therapeutic significance and prognosis of affected people in the majority population and Roma minority in this region of Slovakia.
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Domina, Emiliia, and Olha Hrinchenko. "Biological features of blood lymphocytes of the primary patients with endometrial cancer." ScienceRise: Biological Science, no. 1(26) (March 31, 2021): 4–9. http://dx.doi.org/10.15587/2519-8025.2021.227335.
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The aim: to examine the radiosensitivity of chromosomes of T-lymphocytes in the blood of primary patients with endometrial cancer depending on the radiation dose. It was expected that the investigations would reveal a cytogenetic parameter as a predictor of radiosensitivity in non-malignant cells of patients exposed to curative irradiation.
Materials and methods. Blood samples from 20 primary patients and 30 conditionally healthy donors were examined. Peripheral blood T-lymphocytes culture test system with metaphase chromosome aberration analysis was used. X-ray test-irradiation was performed at G0-stage of the cell cycle in the dose range of 0.5–3.0 Gy.
Results. It was shown that the spontaneous level of chromosome aberrations in lymphocytes of primary patients before anti-tumour therapy is 7,82±0,33 aberrations/100 metaphases. This is more than 2-fold higher than the upper limit of average population index and approximately 6-fold higher than the data of own control. In our study during X-ray irradiation of cells cultures of patients, it was found for the first time that the total frequency of radiation-induced chromosome aberrations obeys the classical linear quadratic dose dependence with a predominance of linear component values; the frequency of radiation markers – also linear quadratic dose dependence, but with a predominance of quadratic component.
Conclusions. High specificity of T-lymphocyte chromosomes to exposure to ionizing radiation as well as strict dependence of chromosome aberration yield on exposure dose justify their use as predictors of radiosensitivity of healthy cells from the tumour environment. The revealed dependences of induction of chromosomal damage in T-lymphocytes of patients with endometrial cancer prove the need for a personalized approach to plan the course of radiation therapy
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Escobar, H., I. Nolte, and N. Reimann-Berg. "Relevance of chromosome 13 aberrations in canine tumours." Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 40, no. 04 (2012): 267–70. http://dx.doi.org/10.1055/s-0038-1623649.
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SummaryFor human tumours there are many reports documenting the correlation between chromosome aberrations and tumour entities. Due to the complex canine karyotypic pattern (78 chromosomes), cytogenetic studies of tumours of the dog are rare. However, the reports in the literature show, that canine chromosome 13 (CFA 13) is predominantly involved in chromosomal changes. Interestingly, CFA 13 shows high homology to regions on the human chromosomes 4 (HSA 4) and 8 (HSA 8), which harbour the proto-oncogenes c-KIT and c-MYC. Both of these genes are involved in the development and progression of some human and canine tumour diseases.
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Röpke, Albrecht, and Frank Tüttelmann. "MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility." European Journal of Endocrinology 177, no. 5 (November 2017): R249—R259. http://dx.doi.org/10.1530/eje-17-0246.
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Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno’s law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno’s law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.
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Chaiphech, Somkid, Isara Patawang, Sumalee Phimphan, Sukhonthip Ditcharoen, Chatmongkon Suwannapoom, and Alongklod Tanomtong. "Cytotoxic Evaluation of <i>Eurycoma longifolia</i> Jack Root Extract on Chromosome Aberrations in Human Lymphocytes <i>In vitro</i>." Journal of Tropical Biodiversity and Biotechnology 7, no. 2 (June 10, 2022): 70543. http://dx.doi.org/10.22146/jtbb.70543.
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This study aimed to investigate chromosomal aberrations of Eurycoma longifolia Jack (EL) root extract in human lymphocytes in vitro. Human whole blood was cultured in medium solution that treated with distilled water, 20% DMSO, extract of EL roots at the concentration of 2.5, 5, 10, 20, 40, 80 µg/mL (extracted with distilled water and ethanol), and nontreated (blank: only culture medium and whole blood). All experiments were cultured for 72 hours in the 37°C incubator. The effects of EL roots extract on cytotoxicity were compared with the control groups including the blank, distilled water, and 20% DMSO. This study found that EL root extract significantly decreased metaphase cell number and increased chromosome aberrations dose dependent manner (p<0.01). The 7 types of chromosome aberration that were observed consisted of dicentric chromosome, single chromatid breaks, isochromatid break, isochromatid gap, single chromatid gap, fragmentation, and deletion. The dicentric chromosome was the most common chromosomal aberrations type that was treated with EL root extract both distilled water and ethanol. Moreover, the ethanolic extract of EL root was more effective to stimulate chromosome aberrations compared to the water extract of EL root (the deletion and fragmentation were not found in the water extract of EL root). This study demonstrated that the phytochemicals of EL root extract had cytotoxicity effect (decreased metaphase cells and increase cells death) and genotoxic effect (increased chromosomal aberrations. The use of EL root crude extract with distilled water is therefore safer for cells. However, when EL is used at high levels, it may lead to the inhibition of cell division process and cause side effects (toxicity). EL extracts consist of various phytochemicals with different properties and dosages, thus more studies should be conducted on the effect of those substances on cytotoxicity, especially their effects on genotoxicity humans.
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Nasiri, F., F. Mahjoubi, F. Manouchehry, F. Razazian, F. Mortezapour, and M. Rahnama. "Cytogenetic Findings in Mentally Retarded Iranian Patients." Balkan Journal of Medical Genetics 15, no. 2 (December 1, 2012): 29–34. http://dx.doi.org/10.2478/bjmg-2013-0004.
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ABSTRACT We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood samples using conventional staining methods. Chromosome anomalies were identified in 205 of the patients (23.6%). The majority were Down’s syndrome cases (n = 138). In 33 males, a positive fragile X anomaly was found .The remainder (n = 34) had other chromosomal abnormalities including structural chromosome aberrations (n = 23), marker chromosomes with an unknown origin (n = 3), sex chromosome aneuploidy (n = 6) and trisomy 18 (n = 2). The contribution of chromosome aberrations to the cause of MR in this group of patients is discussed.
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Yu, Miao, and Yu Bin Ji. "Study on Reversibility of Genetic Toxicity of TDI in Mice." Advanced Materials Research 183-185 (January 2011): 905–9. http://dx.doi.org/10.4028/www.scientific.net/amr.183-185.905.
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Study on whether genetic toxicity of toluene diisocyanate (TDI) is reversible. This paper detected Chromosomal aberrations and content of RNA & DNA. Chromosome aberration rate and the RNA/DNA ratio of TDI 1/4LC50 and 1/2 LC50 dosing exposure group were higher than negative control group significantly (P<0.01). There was no significant difference between 1/4LC50 and 1/2LC50 (P>0.05).The results showed that the damage of TDI on chromosomes and DNA was repairable, but can not be repaired completely.
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Mayr, Christine, David M. Kofler, Raymund Buhmann, John Strehl, Raymonde Busch, Michael Hallek, and Clemens-Martin Wendtner. "High Incidence of Translocations in CLL: A New Prognostic Marker for Infavorable Survival Outcome." Blood 104, no. 11 (November 16, 2004): 17. http://dx.doi.org/10.1182/blood.v104.11.17.17.
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Abstract BACKGROUND: Conventional metaphase cytogenetics underestimates the frequency of specific chromosome aberrations in B-CLL due to the low in vitro proliferative activity of CLL cells. We could recently show that stimulation of CLL cells with CD40 ligand (CD40L) induced cell cycle progression and increased the frequency of metaphases of CLL cells, which are then suitable for chromosome banding. In the present study we compared this new technique, CD40L-enhanced cytogenetics (CEC) with molecularcytogenetic data obtained by fluorescence in situ hybridization (FISH) on CLL cells. Methods: Blood samples were obtained from 95 CLL patients (Binet A: 31%, Binet B: 30%, Binet C: 39%) and subjected to simultaneous analysis by CEC and FISH. 56% of patients were previously untreated, while 44% of patients received at least one course of chemotherapy prior to the study. RESULTS: By FISH, 80% of analysed samples revealed aberrations like deletion of chromosome 11, 13 or 17 or trisomy 12. By CEC, chromosomal aberrations (range 0 to 14; median: 1) were detected in 90% of samples involving all chromosomes except the X chromosome. Importantly, a high incidence of balanced and unbalanced translocations were seen in 33 patients (35%) while 70% of the breakpoints involved were recurring. Median treatment-free survival (TFS) was significantly shorter for patients with translocations P< .0001). For patients with unbalanced translocations, overall survival was also significantly (decreased P= .0007). 25% of patients with 13q deletion as single aberration in FISH analysis additionally showed translocations (by CEC. These patients had a significantly shorter TFS compared to patients with 13q deletion as true sole aberration (median TFS: 36 mo vs. 132 mo; P= .0004). This was also true for patients with deletion of 11q. Patients with 11q- and translocations had a significant shorter TFS than patients with 11q- without translocations (median TFS: 13 mo vs. 48 mo; P= .011). All patients with 17p deletion showed translocations. In order to exclude the possibility that cytogenetic aberrations occurred as a possible treatment-associated secondary event, in a second analysis only patients who were untreated at the time of cytogenetic analysis were evaluated. In 22% of untreated patients translocations were detected and again they showed significantly lower TFS rates compared to patients without translocations (median TFS: 26 mo vs. 109 mo; P = .0128). In a multivariate analysis including Binet stage, presence of a complex karyotype (≥ 3 chromosomal aberrations), CD38 expression, 11q- and 17p-, the occurance of translocations proved to be the prognostic marker with the highest impact for an infavorable clinical outcome P< .001). CONCLUSION: Taken together, CEC is able to detect new chromosomal aberrations in CLL and enables a risk assessment for CLL patients based on the incidence of translocations otherwise indetectable by FISH or conventional metaphase cytogenetics.
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Hiraoka, Mina, Kei-ichi Watanabe, Keiko Umezu, and Hisaji Maki. "Spontaneous Loss of Heterozygosity in Diploid Saccharomyces cerevisiae Cells." Genetics 156, no. 4 (December 1, 2000): 1531–48. http://dx.doi.org/10.1093/genetics/156.4.1531.
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Abstract To obtain a broad perspective of the events leading to spontaneous loss of heterozygosity (LOH), we have characterized the genetic alterations that functionally inactivated the URA3 marker hemizygously or heterozygously situated either on chromosome III or chromosome V in diploid Saccharomyces cerevisiae cells. Analysis of chromosome structure in a large number of LOH clones by pulsed-field gel electrophoresis and PCR showed that chromosome loss, allelic recombination, and chromosome aberration were the major classes of genetic alterations leading to LOH. The frequencies of chromosome loss and chromosome aberration were significantly affected when the marker was located in different chromosomes, suggesting that chromosome-specific elements may affect the processes that led to these alterations. Aberrant-sized chromosomes were detected readily in ∼8% of LOH events when the URA3 marker was placed in chromosome III. Molecular mechanisms underlying the chromosome aberrations were further investigated by studying the fate of two other genetic markers on chromosome III. Chromosome aberration caused by intrachromosomal rearrangements was predominantly due to a deletion between the MAT and HMR loci that occurred at a frequency of 3.1 × 10-6. Another type of chromosome aberration, which occurred at a frequency slightly higher than that of the intrachromosomal deletion, appeared to be caused by interchromosomal rearrangement, including unequal crossing over between homologous chromatids and translocation with another chromosome.
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Bardi, Georgia, Claus Fenger, Bertil Johansson, Felix Mitelman, and Sverre Heim. "Tumor Karyotype Predicts Clinical Outcome in Colorectal Cancer Patients." Journal of Clinical Oncology 22, no. 13 (July 1, 2004): 2623–34. http://dx.doi.org/10.1200/jco.2004.11.014.
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Purpose To investigate the prognostic value of the overall karyotypic features and specific chromosome aberrations in colorectal cancer (CRC). Patients and Methods Cytogenetic features of 150 primary CRCs investigated at the time of surgery were correlated with patient survival by univariate and multivariate analyses, using classical clinicopathologic parameters as covariates. Results In univariate analysis, in addition to tumor grade and clinical stage, structural aberrations as well as rearrangements of chromosomes 8 and 16 were significantly correlated with shorter overall survival. Karyotypic complexity, rearrangements of chromosomes 8 and 16, and loss of chromosome 4 were significantly correlated with shorter disease-free survival. In multivariate analysis, in addition to tumor grade, the type of chromosome aberrations (structural or numerical), ploidy, and loss of chromosome 18 came across as independent prognostic factors in the group of all patients. In the subset of patients with stage I and II carcinomas, none of the clinicopathologic variables could independently predict patient survival, whereas the presence of structural chromosomal aberrations was the only independent predictor of poor prognosis. In the subset of patients with stage III carcinomas, the presence of structural changes of chromosome 8 was a stronger independent predictor of prognosis than was tumor grade. Conclusion Cytogenetic tumor features are valuable predictors of prognosis in CRC patients. The tumor karyotype should therefore be taken into account in the clinical management of patients with this disease, especially for patients having cancers of the early or intermediate stages I, II, and III.
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Lukaszewski, Adam J. "Construction of midget chromosomes in wheat." Genome 40, no. 4 (August 1, 1997): 566–69. http://dx.doi.org/10.1139/g97-074.
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To test the usefulness of breakage–fusion–bridge (BFB) cycles in generating new chromosome aberrations in bread wheat (Triticum aestivum L.) and to extend the range of aberrations available, a series of midget chromosomes was produced from the long arm of chromosome 1B. Using a reverse tandem duplication initiated chromatid type BFB cycle, the 1BL arm was broken and fused with centromeres of either chromosome 5BL or 1RS to form dicentric chromosomes. The 1R and 5B centromeres were broken by centric misdivision. Among the progenies of plants with dicentric chromosomes, two classes of monocentric chromosomes were selected: deficient chromosomes 1B and chromosomes that had 1RS or 5BL for one arm and various fragments of 1BL for the other arm. Following centric misdivision of these monocentrics, midget chromosomes 1BL were isolated: deficient and deletion telocentrics and telocentrics derived from interstitial regions of 1BL. By chance, one deficient chromosome 1BS and one deletion chromosome 1BS were identified in unrelated lines of the same wheat. Following centric misdivision of these chromosomes, two midget chromosomes covering the whole of 1BS were added to the set.Key words: breakage–fusion–bridge cycle, centric misdivision, chromosome aberrations.
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Vajen, Beate, Kathrin Thomay, Winfried Hofmann, Brigitte Schlegelberger, and Gudrun Göhring. "Numerical Aberrations Involving The X Chromosome As a New Recurrent Aberration In Patients With Chronic Lymphocytic Leukemia." Blood 122, no. 21 (November 15, 2013): 4880. http://dx.doi.org/10.1182/blood.v122.21.4880.4880.
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Abstract Genomic aberrations in CLL are important independent predictors of disease progression and survival in chronic lymphocytic leukemia (CLL). The most frequent changes are a deletion in 13q with a median survival of 133 months, a deletion in 11q (median survival 79 months), trisomy of chromosome 12 (114 months) and a deletion in 17p (32 months) (Döhner et al., NEJM, 2000; Hallek et al., Lancet, 2010). Between 2001 and 2012 we performed cytogenetic analyses of 2360 patients with CLL. We detected clonal chromosome aberrations in 1298/2360 (55%). Besides typical recurrent aberrations associated with CLL, we observed in 72/2360 (3%) clonal numerical aberrations involving the X chromosome. In 50/72 patients (69%) a loss of chromosome X and in 22/72 patients (31%) a gain of an X chromosome was detected. So far, numerical alterations of the X chromosome have not been described as recurrent aberrations detected in CLL. In order to understand their significance, we analysed those cases in greater detail. Median age of patients was 69 years (33-89 years) and the sex distribution was 64 female and 8 male (ratio 8:1). The patient cohort with the loss of the X chromosome consisted of 48 female and two male patients between 35 and 89 years of age (median age 69 years). In 52% (26/50) loss of chromosome X was detected as a sole abnormality and 22% (11/50) showed the loss of X within a complex karyotype. There was an association between loss of the X chromosome and trisomy 12 in 10% (5/50) and with deletion in 13q in 22% (11/50). In two cases, a clonal evolution was observed with the loss of the X chromosome in the main clone. Four independent clones (8%) were identified, three with trisomy 12 (6%) and one with a deletion in 11q (2%). Further, we analysed cases with a gain of the X chromosome (22 patients with CLL (16 female,6 male) between 33 and 81 years of age (median age 63 years)). In 15/22 patients (68%) a gain of the X chromosome was identified as a sole abnormality and in 6 of 22 within a complex aberrant karyotype. In 3/22 patients (14%) with an isolated gain of the X chromosome, we detected an independent clone. The independent clone was a trisomy 12 (two patients) and a monosomy X (one patient). In two cases, a clonal evolution was identified with gain of chromosome X in the subclone as a secondary event. Interestingly, the clone size was rather small. The median size of clones with loss of the X chromosome was 6/20 metaphases (30%) and with gain of the X chromosome was 4/20 metaphases (20%). In 8 patients, a loss of chromosome X could be detected in two metaphases only or a gain in one metaphase only, not fulfilling the criteria for clonality. In these cases, fluorescence in situ hybridization never confirmed the presence of a clone with X chromosome abnormalities. Even though a monosomy X has been reported as a recurrent somatic sole abnormality in MDS, it is not a characteristic aberration specific for any subtype of leukemia, lymphoma or a solid tumor (Abruzzese et al., Cancer Genet Cytogenet, 1997). The constitutional loss of the X chromosome is associated with Turner syndrome, a genetic disorder affecting 1/2500-3000 live-born. Notably, in a mosaic Turner syndrome patient with CLL, abnormal clones were restricted to the monosomic cells, indicating that loss of the X chromosome provides an advantage for leukemia cells (Manola et al., Leuk Res., 2008). However, CLL is not associated with Turner syndrome. A gain of chromosome X was observed by Aamot et al. (J Cancer Res Clin Oncol., 2007) in 17% of patients with follicular lymphomas as a secondary aberration with the characteristic translocation t(14;18) not affecting the overall survival. This is in accordance with our findings that a gain of the X chromosome could be a characteristic aberration in lymphatic neoplasms. Since we detected the aberrations involving chromosome X mostly in CLL, a constitutional mosaicism is unlikely. Otherwise, a constitutional mosaic would possibly be a predisposing factor for CLL. Putative candidate genes on chromosome X are not known. BRWD3, located on Xq13, encodes a bromodomain and WD repeat domain-containing protein and could be a putative novel transcription factor, since it is involved in translocations and is slightly down-regulated in CLL patients (Kalla et al., Genes Chromosomes Cancer, 2005). In summary, we identified numerical aberrations of the X chromosomes as new recurrent aberrations in CLL. The impact is still unknown and has to be analysed in further studies. Disclosures: No relevant conflicts of interest to declare.
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Samura, Osamu, Yoshiharu Nakaoka, and Norio Miharu. "Sperm and Oocyte Chromosomal Abnormalities." Biomolecules 13, no. 6 (June 17, 2023): 1010. http://dx.doi.org/10.3390/biom13061010.
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Gametogenesis, the process of producing gametes, differs significantly between oocytes and sperm. Most oocytes have chromosomal aneuploidies, indicating that chromosomal aberrations in miscarried and newborn infants are of oocyte origin. Conversely, most structural anomalies are of sperm origin. A prolonged meiotic period caused by increasing female age is responsible for an increased number of chromosomal aberrations. Sperm chromosomes are difficult to analyze because they cannot be evaluated using somatic cell chromosome analysis methods. Nevertheless, researchers have developed methods for chromosome analysis of sperm using the fluorescence in situ hybridization method, hamster eggs, and mouse eggs, allowing for the cytogenetic evaluation of individual sperm. Reproductive medicine has allowed men with severe spermatogenic defects or chromosomal abnormalities to have children. However, using these techniques to achieve successful pregnancies results in higher rates of miscarriages and embryos with chromosomal abnormalities. This raises questions regarding which cases should undergo sperm chromosome analysis and how the results should be interpreted. Here, we reviewed clinical trials that have been reported on oocyte and sperm chromosome analyses. Examination of chromosomal abnormalities in gametes is critical in assisted reproductive technology. Therefore, it is necessary to continue to study the mechanism underlying gametic chromosomal abnormalities.
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Heerema, Nyla A., Gerard Lozanski, Thomas S. Lin, Molly Moran, Michael R. Grever, and John C. Byrd. "Cytogenetic Studies of 539 Chronic Lymphocytic Leukemia (CLL) Patients." Blood 106, no. 11 (November 16, 2005): 1192. http://dx.doi.org/10.1182/blood.v106.11.1192.1192.
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Abstract Previous banded metaphase cytogenetic studies of CLL identified deletions of 13q, 11q, 17p and 6q and trisomy 12 as recurring aberrations; all except del(6q) have well-recognized prognostic significance. The association of other cytogenetic abnormalities with these recurring aberrations has not been previously described. To more completely characterize our patients with CLL, we performed banded metaphase cytogenetics and fluorescence in situ hybridization (FISH) on 539 patients with previously untreated as well as relapsed CLL. By banded metaphase analysis 236 cases were abnormal, 282 were normal (≥20 metaphases and no abnormal clone identified) and 21 were culture failures. Of the 236 abnormal cases, 30 had a sole numerical sex chromosome abnormality, which may not represent the malignant clone. 89 cases had complex karyotypes (≥ 3 unrelated abnormalities), and 147 had simple abnormalities. Losses (451 total, 116 whole chromosome, 47 of which were sex chromosomes, and 335 partial losses) were much more common than gains (132 total, 110 whole chromosome, 68 +12, 13 +X or Y, only 29 other whole chromosome gains, and 22 partial chromosome gains). 130 balanced rearrangements occurred; most frequently involving chromosomes 14 and 1 (15 and 14 balanced rearrangements, respectively). As previously reported, +12, del(13q), del(11q), del(17p) and del(6q) occurred frequently (34.3%, 14.4%, 16.5%, 22.9%, and 10.2% of cases, respectively). Other frequent losses involved 14q, 9p, 3p and 18p (8.5%, 6.8%, 6.4% and 5.9% of cases, respectively). Partial chromosome losses usually resulted from apparent unbalanced translocations, suggesting frequent non-reciprocal interchromosomal rearrangements that may represent a unique form of chromosomal instability. We recently have begun examining the clinical significance of secondary abnormalities occurring with common aberrations in CLL. Of interest, all patients with t(14;18)(q32;q21) and 7 of 10 patients with trisomy 18 also had trisomy 12. All 4 patients with t(14;18) CLL had atypical immunophenotypes with only one developing symptomatic disease requiring therapy. A similar atypical immunophentype was found in 5 of 7 pts with co-existent trisomy 12 and 18, and only one of these patients has progressed to require treatment. In contrast, 36 of the remaining 57 pts with trisomy 12 have developed progressive disease requiring therapy. Overall, our studies show that multiple chromosomal aberrations in addition to those commonly reported occur in CLL. Chromosomal losses are more common than gains, and unbalanced rearrangements are more frequent than balanced rearrangements. The unbalanced rearrangements are frequently interchromosomal and may indicate a unique type of chromosomal instability. Unlike the other common cytogenetic aberrations in CLL, trisomy 12 appears to be associated with secondary aberrations including t(14;18) and trisomy 18 that may define a different more favorable clinical pathologic history than observed in trisomy 12 patients without these secondary aberrations.
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Kašuba, Vilena, Ružica Rozgaj, and Anamarija Jazbec. "Chromosome Aberrations in Peripheral Blood Lymphocytes of Croatian Hospital Staff Occupationally Exposed to Low Levels of Ionising Radiation." Archives of Industrial Hygiene and Toxicology 59, no. 4 (December 1, 2008): 251–59. http://dx.doi.org/10.2478/10004-1254-59-2008-1909.
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Chromosome Aberrations in Peripheral Blood Lymphocytes of Croatian Hospital Staff Occupationally Exposed to Low Levels of Ionising RadiationMedical staff is an occupational group exposed to different agents suspected to induce genetic damage. Among them ionising radiation is the most studied. Cytogenetic analysis of human chromosomes in peripheral lymphocytes allows direct detection of mutation in somatic cells. This study investigated the cytogenetic effects of low-level ionising x-radiation in 48-hour peripheral blood lymphocyte cultures sampled from 765 hospital staff occupationally exposed to several agents known or suspected to induce chromosome damage and compared them with 200 control subjects. The exposed subjects were divided in eight (8) groups according to their specialities and job titles. The exposed groups manifested an increase in all types of chromosome aberrations. Acentric fragments were the most frequent chromosome-type aberration. Dicentric chromosomes were statistically significant only in urologists/gynaecologists. Age and smoking significantly influenced the incidence of dicentrics in the exposed groups. The frequency of ring chromosomes was low in all exposed groups (range: 0-2), and none were found in the control group. These findings indicate the importance of periodic medical checkups of hospital staff occupationally exposed to low doses of ionising radiation. The purpose is to create an individual cytogenetic register, where changes could evidence individual risks.
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Vernizzi, Luisa, and Christian F. Lehner. "Dispersive forces and resisting spot welds by alternative homolog conjunction govern chromosome shape in Drosophila spermatocytes during prophase I." PLOS Genetics 18, no. 7 (July 27, 2022): e1010327. http://dx.doi.org/10.1371/journal.pgen.1010327.
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The bivalent chromosomes that are generated during prophase of meiosis I comprise a pair of homologous chromosomes. Homolog pairing during prophase I must include mechanisms that avoid or eliminate entanglements between non-homologous chromosomes. In Drosophila spermatocytes, non-homologous associations are disrupted by chromosome territory formation, while linkages between homologous chromosomes are maintained by special conjunction proteins. These proteins function as alternative for crossovers that link homologs during canonical meiosis but are absent during the achiasmate Drosophila male meiosis. How and where within bivalents the alternative homolog conjunction proteins function is still poorly understood. To clarify the rules that govern territory formation and alternative homolog conjunction, we have analyzed spermatocytes with chromosomal aberrations. We examined territory formation after acute chromosome cleavage by Cas9, targeted to the dodeca satellite adjacent to the centromere of chromosome 3 specifically in spermatocytes. Moreover, we studied territory organization, as well as the eventual orientation of chromosomes during meiosis I, in spermatocytes with stable structural aberrations, including heterozygous reciprocal autosomal translocations. Our observations indicate that alternative homolog conjunction is applied in a spatially confined manner. Comparable to crossovers, only a single conjunction spot per chromosome arm appears to be applied usually. These conjunction spots resist separation by the dispersing forces that drive apart homologous pericentromeric heterochromatin and embedded centromeres within territories, as well as the distinct chromosomal entities into peripheral, maximally separated territories within the spermatocyte nucleus.
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Klampfl, Thorsten, Ashot Harutyunyan, Tiina Berg, Bettina Gisslinger, Martin Schalling, Klaudia Bagienski, Damla Olcaydu, et al. "Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression." Blood 118, no. 1 (July 7, 2011): 167–76. http://dx.doi.org/10.1182/blood-2011-01-331678.
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Abstract Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs) are clonal myeloid disorders with increased production of terminally differentiated cells. The disease course is generally chronic, but some patients show disease progression (secondary myelofibrosis or accelerated phase) and/or leukemic transformation. We investigated chromosomal aberrations in 408 MPN samples using high-resolution single-nucleotide polymorphism microarrays to identify disease-associated somatic lesions. Of 408 samples, 37.5% had a wild-type karyotype and 62.5% harbored at least 1 chromosomal aberration. We identified 25 recurrent aberrations that were found in 3 or more samples. An increased number of chromosomal lesions was significantly associated with patient age, as well as with disease progression and leukemic transformation, but no association was observed with MPN subtypes, Janus kinase 2 (JAK2) mutational status, or disease duration. Aberrations of chromosomes 1q and 9p were positively associated with disease progression to secondary myelofibrosis or accelerated phase. Changes of chromosomes 1q, 7q, 5q, 6p, 7p, 19q, 22q, and 3q were positively associated with post-MPN acute myeloid leukemia. We mapped commonly affected regions to single target genes on chromosomes 3p (forkhead box P1 [FOXP1]), 4q (tet oncogene family member 2 [TET2]), 7p (IKAROS family zinc finger 1 [IKZF1]), 7q (cut-like homeobox 1 [CUX1]), 12p (ets variant 6 [ETV6]), and 21q (runt-related transcription factor 1 [RUNX1]). Our data provide insight into the genetic complexity of MPNs and implicate new genes involved in disease progression.
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Chaudhry, Asha, Preety Bhinder, Ram Kumar, and Ravneet Kaur. "Evaluation of the mutagenic potential of propoxur and methyl parathion using polytene chromosomes of Anopheles stephensi." Journal of Applied and Natural Science 4, no. 1 (June 1, 2012): 79–84. http://dx.doi.org/10.31018/jans.v4i1.227.
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The mutagenicity of two pesticides, propoxur and methyl parathion was evaluated by using polytene chromosomes of Anopheles stephensi. The results were based on the frequency of various structural aberrations encountered in the polytene chromosomes of the larvae treated with LC20 of propoxur and methyl parathion separately. Propoxur induced a total of 67 aberrations as against 15 in the controls while methyl parathion induced 53 aberrations as against 13 in the controls. These aberrations were dominated by inversions, translocations, deletions, ectopic pairing, asynapses, breaks, fusions and induced puffing. The frequency of propoxur induced aberrations was highest in chromosome 3R followed by 2R, 3L, 2L and X-chromosome. Methyl parathion induced highest number of aberrations in 2R followed by 2L, 3R, 3L and X-chromosomes. This study suggests that larval polytene chromosomes are sensitive indicators of pesticide genotoxicity in which both propoxur and methyl parathion are significantly chromotoxic for the genome of a mosquito taken as an experimental insect.
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Kaya, Nergis. "Evaluation of Genotoxic Effect of Phloxine by Allium Test." Turkish Journal of Agriculture - Food Science and Technology 10, no. 4 (May 5, 2022): 637–41. http://dx.doi.org/10.24925/turjaf.v10i4.637-641.4708.
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Phloxine is used as a food dye. In this study, genotoxicity of phloxine at the root tip of Allium cepa L. was investigated. A. cepa L. meristematic root tip cells were treated with ten different doses of phloxine. In this way, the EC50 value was determined. Then, phloxine was applied to root tips at EC50/2, EC50 and EC50×2 doses. Treatment time was determined as 24, 48 and 72 hours. As a result, it was revealed that phloxine caused chromosomal aberrations in cells in mitotic cycle at the root tip of A. cepa. There are equatorial plate shifting in metaphase, laggard chromosome, disturbed spindle, chromosome stickiness, C-mitosis, polar shifting among the observed chromosomal aberrations. It was stated that the % chromosomal aberration index (CAI) increased depending on concentration increase. It has been demonstrated that the highest % chromosomal aberration index occurred at the EC50×2 dose for 72 hours. According to the research, it was revealed that phloxine has a genotoxic effect on the root cells of A. cepa. For this reason, it can be emphasized that care should be taken in its use in foods.
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Haferlach, Claudia, Susanne Schnittger, Tamara Weiss, Wolfgang Kern, Brunangelo Falini, and Torsten Haferlach. "About 17% of AML with NPM1 mutations Show a Specific Pattern of Chromosome Aberrations but These Cases Do Not Differ Prognostically from AML with NPM1 Mutations Carrying a Normal Karyotype." Blood 112, no. 11 (November 16, 2008): 2527. http://dx.doi.org/10.1182/blood.v112.11.2527.2527.
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Abstract AML with mutated nucleophosmin gene (AML NPM1mut) usually carries a normal karyotype and will be suggested as a provisional entity in the new WHO classification. Thus far, the impact of chromosome aberrations in AML NPM1mut has not been evaluated in detail. Aim of this study was to determine the incidence and prognostic impact of clonal chromosome aberrations in NPM1mut. We further compared this pattern to additional aberrations in AML with recurrent genetic aberrations: t(8;21)(q22;q22), inv(16)(p13q22)/t(16;16)(p13;q22), t(15;17)(q22;q12) and 11q23-abnormalities leading to an MLL-rearrangement. In total 415 AML (de novo AML: 392, s-AML: 11, t-AML: 12) showing an NPM1 mutation were analyzed by chromosome banding analysis. 71 of these showed clonal chromosome aberrations (17.1%; de novo AML: 63 (16.1%), s-AML: 5 (45.5%), t-AML: 3 (25%); de novo AML vs. s-AML: p=0.024). Overall, 111 chromosome aberrations were observed. The most frequent abnormalities were +8 (n=30), −Y (n=10), +4 (n=9), del(9q) (n=5), +21 (n=4), −7 (n=3), +5 (n=2), +10 (n=2), +13 (n=2),+18 (n=2), del(12p) (n=2), del(20q) (n=2), other non-recurrent balanced aberrations (n=6), other non-recurrent unbalanced aberrations (n=32). For comparison 63 AML with t(8;21), 37 cases with inv(16)/t(16;16), 83 patients with t(15;17) and 83 AML showing a 11q23/MLL-rearrangement were evaluated. 44 (69.7%), 13 (35.1%), 39 (47%), and 28 (43.1%) cases showed clonal chromosome aberrations in addition, respectively. Therefore, additional chromosomal aberrations are more frequent in all these subgroups than in the AML NPM1mut. Similar to NPM1mut cases +8 (n=2), −X/Y (n=32), +4 (n=2), and del(9q) (n=10) were observed. The only other recurrent additional aberrations was del(11q) (n=2). In inv(16)/t(16;16) we also found +8 (n=5) and −Y (n=1). The only other recurring additional aberrations were +22 (n=6) and del(7q) (n=2). In AML with t(15;17) recurring additional abnormalities were +8 (n=12), −Y (n=3), del(9q) (n=2), ider(17)(q10) t(15;17) (n=7). AML with 11q23/MLL-rearrangement showed +4 (n=2), +8 (n=8), +13 (n=2), +19 (n=4), +21(n=4), +22 (n=2), −Y (n=1). Thus, chromosome aberration in AML NPM1mut share many overlaps to those in AML with recurrent aberrations. Furthermore, the prognostic impact of chromosome aberrations in AML NPM1mut was evaluated. No difference with respect to overall survival (OS) and event-free survival (EFS) was observed between AML NPM1mut with a normal (n=344) and an aberrant karyotype (n=71) (OS at 2 yrs 78% vs. 81%, p=0.969; EFS at 2 yrs 40% vs. 50%, median EFS 544 days vs. 522 days, p=0.253). The FLT3-ITD status was available in 400 cases. 127 (38%) of 334 cases with a normal karyotype showed a FLT3-ITD, while in only 16 (24%) of 66 cases with an aberrant karyotype a FLT3-ITD was observed (p=0.035). While the negative prognostic impact of additional FLT3-ITD was confirmed in our cohort, the presence of chromosome aberrations did not influence prognosis neither in the FLT3-ITD negative nor in the FLT3-ITD positive subgroup. In addition, 31 patients with AML NPM1mut were analyzed by chromosome banding analysis at diagnosis and at relapse (median time diagnosis to relapse: 301 days (range: 71–986). 22 cases (71%) showed a normal karyotype both at diagnosis and relapse. In 4 cases a normal karyotype was observed at diagnosis and an aberrant karyotype at relapse (del(9q) (n=2), t(2;11) (n=1), inv(12) (n=1)). One case with +8 at diagnosis showed +8 also at relapse. One case with +4 at diagnosis showed +4 and additional aberrations at relapse. In 1 case clonal regression was observed (+21 -> normal). One case with an unbalanced 1;3-translocation at diagnosis showed a der(17;18) (q10;q10) at relapse and one case with −Y at diagnosis showed a del(3p) at relapse. In conclusion: 1. Frequency of additional chromosome aberrations is low in AML NPM1mut as compared to other genetically defined WHO entities. 2. The pattern of additional chromosome aberrations is overlapping between the 5 groups analyzed. 3. Chromosome aberrations observed at diagnosis in AML NPM1mut do not influence prognosis in comparison to AML NPM1mut with normal karyotype. 4. The karyotype is stable in most AML NPM1mut patients at diagnosis and at relapse. These results point to chromosomal aberrations occurring in AML NPM1mut as secondary events and further support inclusion of AML NPM1mut as a provisional entity in the new WHO classification.
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Hussen Khalel, Sarab, Khalid Ibrahim Riah, and Rabab Hajwal. "Chromosomal Aberration Study of Human Lymphocytes exposed to Americium -241 in vitro." AL-QADISIYAH MEDICAL JOURNAL 13, no. 23 (October 26, 2018): 160–66. http://dx.doi.org/10.28922/qmj.2017.13.23.160-166.
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This study was intended to decide the impact of ?-partcales for acceptance of chromosome deviation. The venous blood sample was drawn from 30 years old healthy male donor. The blood sample after cultured in RPMI was divided into two groups, the first was as control and the second was exposed to radiation from Am-241 to detect the effect of it on chromosomal aberration (CA). The cultures exposed to Am-241 have dicentric (52.8%), breaks (20%) , fragments(18.5%) and (6.8%) ring chromosomes . There was significant differences (p ? 0.5 ) compared with control sample. Dicentric show high percentage of chromosomal aberration compared with other CA. The mean of mitotic index (MI) and stander deviation was (2.212±2.236) for radiation exposed sample higher than that of control was(1.565±1.581). It has been concluded the exposure to low ?-particales could caused chromosomal aberrations in human cells.
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Sawyer, Jeffery, Erming Tian, Brian A. Walker, Niels Weinhold, Charles Swanson, Janet L. Lukacs, Regina Binz, et al. "Concurrent Amplification of MYC and 1q21 in Multiple Myeloma: Focal and Segmental Jumping Translocations of MYC." Blood 128, no. 22 (December 2, 2016): 3266. http://dx.doi.org/10.1182/blood.v128.22.3266.3266.
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Abstract Introduction Multiple myeloma (MM) is characterized by an accumulation of secondary chromosome aberrations which lead to cytogenetically heterogeneous subpopulations of cells in the subclonal progression of this disease. Copy number aberrations (CNAs) represent a large proportion of these aberrations and include both numerical and structural chromosome aberrations which involve unbalanced translocations, amplifications, insertions, and deletions. Secondary MYC translocations are thought to play a role in driving the transition from MGUS to MM, and during tumor progression additional secondary CNAs of both MYC (8q24) and 1q21 are found in relapsed patients. When CNAs are taken into account the percentage of myeloma cases where MYC is deregulated is 55%, making it the most common genetic event in MM (Walker B. et al., Nature Comm, 2015). In fact, high resolution SNP arrays have shown that somatic CNAs of MYC and 1q21 are two of the top ten CNAs in all cancers (Beroukhim R. et al., Nature, 2010). Two types of amplification predominate by SNPs array, either large arm-length amplifications (25% of the genome) or small focal CNAs (10% of the genome). Unfortunately, the origins of the complex structural chromosomal aberrations which underlie these types CNAs have not been well characterized in MM. To better understand the possible relationship between MYC and 1q21 CNAs we undertook a comprehensive metaphase cytogenetic analysis of 26 diagnostic specimens showing concurrent MYC and 1q21 CNAs by G-banding. Methods Locus specific FISH probes and Spectral karyotyping were used to define and follow the progression of aberrations occurring in these two regions. Locus specific FISH probes for selected regions of chromosomes 1 and 8 pericentromeric regions and the regions surrounding 1q21 and 8q24 were utilized. Results Three primary aberration patterns were observed:The most frequent pattern involved copy number gains in both regions, apparently occurring independently of each other (sixteen patients).The second most frequent pattern showed unbalanced segmental jumping translocations (SJTs) of 8q and the MYC locus to different receptor chromosomes. These unbalanced translocations of MYC were found in seven patients involving varying sized segments of 8q, and included both intra and inter-chromosomal translocations. Surprisingly, three patients in this group showed clones with the co-amplification of MYC and 1q21 on the same derivative chromosome, where 8q and MYC were in essence piggybacking on jumping translocations of 1q12 (JT1q12) to receptor chromosomes.Finally, the third and most complex structural aberration pattern involved the breakage-fusion-bridge cycle mechanism, which results in focal amplifications of genes. This mechanism typically results from telomere shortening and loss and subsequent formation of dicentric chromosomes. Evidence of dicentric chromosomes 8 and the breakage fusion break amplification of MYC was identified in three patients and, strikingly, in one case was found to be initiated by a JT1q12 to 8qter. Therefore, this case identifies a novel alternative mechanism for the focal amplification of the MYC locus whereby the JT1q12 initiates sister chromatid fusion at 8q24. Conclusion We demonstrate for the first time the mechanistic coupling of MYC and 1q21 amplifications involving sequential jumping translocations of 8q and JT1q12s. These findings provide evidence for the origin of both arm-length and focal amplifications of MYC, and that these aberrations can co-evolve in the same clones. The concurrent amplification of MYC and 1q21 suggests pericentromeric instability, and to a lesser extent telomeric instability, play a role in driving CNAs of both of these genomic lesions in MM. Disclosures Davies: Celgene: Consultancy, Honoraria; Takeda: Consultancy, Honoraria; Janssen: Consultancy, Honoraria. Morgan:Univ of AR for Medical Sciences: Employment; Celgene: Consultancy, Honoraria, Research Funding; Takeda: Consultancy, Honoraria; Bristol Meyers: Consultancy, Honoraria; Janssen: Research Funding.
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Dzitsiuk, V., and H. Tipilo. "Chromosomal anomalies in dairy cattle as reasons of impaired fertility." Agricultural Science and Practice 6, no. 1 (April 15, 2019): 60–66. http://dx.doi.org/10.15407/agrisp6.01.060.
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Aim. The evaluation of animals for the presence of chromosomal anomalies is one of the main tasks of prac- tical selection, aimed at detecting undesired chromosomal anomalies in early age, which may have negative impact on the reproductive and productive capability of cows and lead to considerable economic losses. The aim of the work is a cytogenetic analysis of the chromosome set in cows of Ukrainian Red-and-Motley dairy cattle breed, which will allow assuming a decrease in reproductive functions with chromosomal aberrations. Methods. We examined 53 cows of the Ukrainian Red-and-Motley dairy cattle breed in SE Research Farm Khrystynivske, IABG named after M.V. Zubets, NAAS. The investigation of chromosomal anomalies involved 72-h cultivation of lymphocytes from the peripheral blood of animals using the common methods. During a routine analysis the preparations were stained with 2 % Giemsa staining solution. The induction of G-bands for differential staining of chromosomes was conducted using 0.25 % solution of trypsin. The processing of study results was performed with Microsoft Excel software package. Results. The investigations in the aberration spectrum detected aneuploid and polyploid cells, breaks and fragments of chromosomes, premature chromo- some disjunction in mitosis and translocation. The total number of aberrant cells in cows with decreased fertil- ity was 14.69 ± 0.56 %, the number of aberrations per one investigated cell was 0.144, which was almost twice reliably (Р < 0.999) exceeding the values of similar features for cows which did not have problems with repro- duction. GTG-banding method was used to detect a new RT 13/23 Robertsonian translocation. Conclusions. The cytogenetic analysis of chromosome set of Ukrainian Red-and-Motley dairy breed cows allows assuming the connection between a decrease in the fertility of cows and chromosomal instability. A routine screening of dairy cows allows both evaluating the karyotype saturation with undesired chromosomal aberrations and using the obtained results to forecast the reproductive ability of an animal in the early age.
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Arnoldus, Edo P. J., Laetitia B. T. Wolters, Joan H. C. Voormolen, Sjoerd G. van Duinen, Anton K. Raap, Mels van der Ploeg, and A. C. Boudewijn Peters. "Interphase cytogenetics: a new tool for the study of genetic changes in brain tumors." Journal of Neurosurgery 76, no. 6 (June 1992): 997–1003. http://dx.doi.org/10.3171/jns.1992.76.6.0997.
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✓ Interphase cytogenetics is the application of nonradioactive in situ hybridization with chromosome-specific DNA probes to interphase nuclei. In this study, interphase cytogenetics was used to investigate 66 primary brain tumors (33 gliomas, 30 meningiomas, and three medulloblastomas) for numerical chromosomal aberrations of chromosomes 1, 6, 7, 10, 11, 17, 18, X, and Y. Of the 33 gliomas (17 astrocytomas grades II, III, and IV, five oligoastrocytomas, seven oligodendrogliomas, and four ependymal tumors), 22 were near diploid, while the remaining 11 showed a significant triploid or tetraploid component. The predominant specific aberrations in gliomas were an over-representation of chromosome 7 (13 cases) and an under-representation of chromosome 10 (16 cases), These changes were observed in grade III and grade IV astrocytomas, as well as in oligodendrogliomas. Other frequent numerical changes were a gain of chromosome 17 (six cases) and a loss of chromosome 18 (seven cases). This loss of chromosome 18 seemed relatively specific for gliomas with an oligodendroglial component (six cases). Only two of 33 gliomas displayed no genetic abnormality with the probes used. Seven patients with astrocytomas died of their brain tumor during the clinical follow-up period. Their astrocytomas did not show a different chromosomal constitution compared to the other gliomas. For the meningiomas, the probe panel was extended with a probe specific for chromosome 22. Loss of chromosome 22 was obvious in 21 of the 30 meningiomas, and was the sole abnormality in 11 meningiomas; in the other 10, this loss was associated with other chromosomal changes. Five of these tumors with additional aberrations were recurrent or atypical meningiomas. It is suggested that interphase cytogenetics can contribute to a better understanding of the biological behavior of these tumors and possibly result in better insights into prognosis and strategies for therapy.
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Pedersen-Bjergaard, J., and JD Rowley. "The balanced and the unbalanced chromosome aberrations of acute myeloid leukemia may develop in different ways and may contribute differently to malignant transformation." Blood 83, no. 10 (May 15, 1994): 2780–86. http://dx.doi.org/10.1182/blood.v83.10.2780.2780.
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Abstract Two general types of clonal chromosome abnormality are observed in de novo acute myeloid leukemia (AML): the unbalanced aberrations with visible gain or loss of chromosome material and the balanced aberrations without such visible gain or loss. AML can be induced by therapy with cytostatic drugs and radiation. The alkylating agents reacting directly with DNA induce AML which often presents as myelodysplasia with unbalanced aberrations, primarily loss of chromosome material. Cytostatic agents targeting DNA-topoisomerase II, frequently administered together with alkylating agents or cisplatin, induce the same type of leukemia. In addition, they often induce another type with a more rapid onset and with specific balanced chromosome aberrations rarely observed after therapy with alkylating agents alone. All of the most important chromosome aberrations found in de novo AML are now also found in therapy-related AML (t-AML); thus, t- AML may serve as a model in the search for mechanisms leading to the development of AML in general. Unbalanced chromosome aberrations with partial deletions or with loss of whole chromosomes may develop as a result of alkylation of DNA or other cellular targets. Balanced chromosome aberrations, on the other hand, may develop as illegitimate recombinations related to the activity of DNA-topoisomerase II. The balanced translocations contribute to malignant transformation by the formation of abnormal chimeric genes, whereas deletions may contribute by the loss of putative tumor suppressor genes. In either situation, the chromosome changes provide the altered cells with a proliferative advantage compared with normal cells.
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Domina, E. A., and Yu V. Dumansky. "MEDICAL AND RADIOBIOLOGICAL ASPECTS OF RADIATION COMDPLICATIONS IN PATIENTS WITH ONCOGINECOLOGICAL PROFILE." Oncology 25, no. 1 (2023): 9–15. http://dx.doi.org/10.15407/oncology.2023.01.009.
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Summary. Aim: to analyze the literature regarding the causes of the occurrence and features of distant complications of radiation therapy of cancer patients; investigation of the frequency and spectrum of spontaneous aberrations of chromosomes in the lymphocytes of peripheral blood of patients with oncogynecological profile (body cancer and cervix) before the onset of radiation therapy. Object and methods: peripheral blood lymphocyte test system with metaphase analysis of chromosome aberrations of 32 primary of cancer patients (follow-up group) and 30 conditionally healthy donors (comparison group). The examination of patients was performed before the onset of radiation therapy. Results: based on the analysis of literature data, the path to a personalized approach to the planning of radiation therapy for patients with oncogyne5 cological profile, the treatment of which is complicated by radiation lesions from the organs and tissues of the pelvis. The clinical and radiobiological aspects of the formation of radiation complications are considered in detail, the search for genetic indicators for the detection of patients with a high risk of developing radiation complications is justified. The results of cytogenetic examinations of patients with endometrial cancer and cervical cancer are close and indicate a 6-fold increase in the frequency of spontaneous chromosome aberrations compared to the population rate. In the spectrum of chromosomal restructures, complex restructures are recorded, which is uncharacteristic of the spontaneous level of aberration in healthy donors, as well as increased levels of chromatide type aberrations. Conclusions: the increased level of spontaneous chromosomal aberrations in T-lymphocytes of primary oncogynecological patients and the predominance of chromatid-type aberrations in the spectrum of registered chromosomal rearrangements indicate that genetic instability is formed in healthy cells before the start of radiation therapy, which predicts the risk of distant radiation complications, including the occurrence of secondary tumors radiation genesis. The examination of patients with the use of cytogenetic test will provide the most reasonable conclusion about the individual radio sensitivity of the patient to the onset of radiation therapy and will contribute to increasing its effectiveness, as well as improving the quality of life.
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Chakraborty, Sujata, Smita Bhatia, Stephen J. Forman, and Ravi Bhatia. "Mechanisms of Susceptibility to 11q23 MLL Gene Locus Rearrangements in CD34+ Cells Exposed to Etoposide." Blood 114, no. 22 (November 20, 2009): 185. http://dx.doi.org/10.1182/blood.v114.22.185.185.
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Abstract Abstract 185 Exposure to the topoisomerase II inhibitor etoposide (VP16) is a significant risk factor in the development of t-MDS/AML. VP16 induces a variety of chromosomal lesions, with the most prominent ones involving the Mixed Lineage Leukemia (MLL) gene on chromosome 11q23. The MLL gene is essential for the maintenance of adult hematopoietic stem cells (HSCs) and progenitors. It is not clear whether the high frequency of MLL gene rearrangements in VP16-treated patients represents increased susceptibility of this locus to VP16-induced damage or a growth advantage of MLL-rearranged hematopoietic progenitors. In the present study we investigated the following: i) the sequence of acquisition of chromosomal lesions in normal CD34+ cells following in vitro exposure to VP16; ii) the specific propensity for development of lesions in 11q23 MLL locus; iii) and the fate of these lesions over time. CD34+ cells were selected from peripheral blood stem cell samples obtained from normal donors (n=5); they were exposed to increasing doses of VP16 (0-40 μM) for 4 hours; washed and cultured in serum-free medium containing growth factors; and assessed for apoptosis, colony forming cell (CFC) assay and chromosomal damage. Chromosome painting was performed using whole chromosome probes for chromosomes 1, 5, 7, 11 and 21, covering 25.2% of total genomic DNA with >100 metaphases scored per dose per time point. Evaluations were performed after 72 hours of culture, representing the 1st cell division after VP16 exposure, and after 144 hours representing 3-4 cell divisions. A dose-dependant decrease in colony formation (71.52 ± 0.99% of controls with 5 mM VP16, and 33.62 ± 4.4%%, with 20 mM VP16 at 72h, p<0.001), and increase in apoptosis (9.12 ± 1.67% with 5 mM VP16, and 39.3 ± 5.06 with 20 mM VP16 at 72h, p<0.001) was observed. The percentage of aberrant metaphases at 1st division was 2.4% with 5 μM and 14.9% with 20 μM of VP16. Both stable aberrations (translocations) and unstable (dicentrics, fragments) aberrations were observed. The percentage of aberrant metaphases was reduced after 3-4 cell divisions (1.4% with 5 μM and 8.7% with 20 μM VP16), and only stable aberrations were present whereas unstable aberrations were eliminated. A higher frequency of aberrations was observed in chromosome 11 compared to the other chromosomes. A 1.5- to 4-fold increase in stable lesions of chromosome 11 relative to other chromosomes was seen at the 1st division and a 2- to 3-fold increase relative to other chromosomes was seen after 3-4 divisions. To assess whether the 11q23 MLL locus was specifically affected by VP16 treatment, we performed interphase FISH with a break-apart probe for the MLL gene (11q23). A break-apart probe for the MYC gene (8q24) was studied as a control. Cells were cultured for three weeks. In preliminary experiments we observed that a higher percentage of cells showed 11q23 abnormalities (9.3%) compared with 8q24 abnormalities (5.4%) at the 1st division. 11q23 abnormalities persisted at high levels in cells (9.9%) cultured for 3 weeks. In contrast, 8q24 abnormalities were markedly reduced (0.4%) after 3 weeks of culture, suggesting selective maintenance of MLL-rearranged cells in culture. In conclusion we show that in vitro exposure to VP16 results in a dose-dependent induction of both stable and unstable chromosomal aberrations in CD34+ hematopoietic progenitors. We observe persistence of stable chromosomal aberrations with particular predisposition to aberrations in chromosome 11. Our results suggest a selective predisposition to 11q23 MLL locus rearrangements that appears to be related to enhanced susceptibility to damage to this locus following VP16 exposure as well as selective maintenance of MLL rearranged cells over subsequent cell divisions. These findings are now being applied to understand the relationship between individual susceptibility to acquisition of VP16-induced 11q23 abnormalities in CD34+ cells and risk of development of t-MDS/AML. Disclosures: No relevant conflicts of interest to declare.
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Hausmann, Michael, C. Paul Popescu, Jeannine Boscher, Dominique Kerboœf, Jürgen Dölle, and Christoph Cremer. "Identification and Cytogenetic Analysis of an Abnormal Pig Chromosome for Flow Cytometry and Sorting." Zeitschrift für Naturforschung C 48, no. 7-8 (August 1, 1993): 645–53. http://dx.doi.org/10.1515/znc-1993-7-819.
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Abstract For cytogenetics of pig (Sus scrofa domestica) and the influence of chromosome aberrations on pig production, high interest exists in flow sorted chromosomes for gene mapping, to establish DNA-libraries, or to produce DNA-probes. Flow karyotyping and sorting as well as slit scan flow analysis of metaphase chromosomes of an abnormal cell type carrying a translocation marker chromosome 6/15 are described. Flow sorting of the largest chromosomes of these cells was performed. After sorting the chromosomes still had a well preserved morphology and were identified microscopically by G-banding. The quality of the band pattern of the sorted chromosomes was compatible to that of isolated chromosomes not subjected to flow cytometry. The sorted fraction showed an enrichment of chromosom e 6/15 and chromosome 1 which have quantitatively about the same integrated fluorescence intensity. Slit scan flow analysis was performed to discriminate these two chromosomes. Metacentric and submetacentric chromosom es were analyzed according to their bimodal slit scan profiles. Profiles of the largest chromosomes were distinguished by their different centromeric indices. Two groups were interpreted as the normal chromosome 1 and the translocation chromosom e 6/15.
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Sinthuwiwat, Thivaratana, Phanasit Poowasanpetch, Angsana Wongngamrungroj, Kamonwan Soonklang, Somying Promso, Chirayu Auewarakul, and Chintana Tocharoentanaphol. "Association of MTHFR Polymorphisms and Chromosomal Abnormalities in Leukemia." Disease Markers 32, no. 2 (2012): 115–21. http://dx.doi.org/10.1155/2012/292507.
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Genetic variation in MTHFR gene might explain the interindividual differences in the reduction of DNA repaired and the increase of chromosome breakage and damage. Nowadays, chromosomal rearrangement is recognized as a major cause of lymphoid malignancies. In addition, the association of MTHFR polymorphisms with aneuploidy was found in several studies, making the MTHFR gene as a good candidate for leukemia etiology. Therefore, in this study, we investigated the common sequence variation, 677C>T and 1298A>C in the MTHFR gene of 350 fixed cell specimens archived after chromosome analysis. The distribution of the MTHFR polymorphisms frequency was compared in leukemic patients with structural chromosome abnormality and chromosome aneuploidy, as well as in those with no evidence of chromosome abnormalities. We observed a significant decrease in the distribution of T allele in 677C>T polymorphisms among patients with chromosomal abnormalities including both structural aberration and aneuploidy. The same significance result also found in patients with structural aberration when compare with the normal karyotype patients. Suggesting that polymorphism in the MTHFR gene was involved in chromosome abnormalities of leukemia. However, further investigation on the correlation with the specific types of chromosomal aberrations is needed.
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Yuan, Jiaying, Lei Jin, Mengting Wang, Shaman Wei, Guijin Zhu, and Bei Xu. "Detection of chromosome aberrations in 17 054 individuals with fertility problems and their subsequent assisted reproductive technology treatments in Central China." Human Reproduction 38, Supplement_2 (November 1, 2023): ii34—ii46. http://dx.doi.org/10.1093/humrep/dead076.
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Abstract STUDY QUESTION How do the types and frequency of chromosome aberrations in couples in central China affect fertility and ART treatment? SUMMARY ANSWER Men with chromosome aberrations or polymorphisms have an increased risk of semen quality impairment and infertility, and couples affected by reciprocal translocations had a lower pregnancy rate compared with other chromosome aberrations. WHAT IS KNOWN ALREADY Karyotyping is crucial for patients affected by infertility as chromosome aberrations play an important role in the etiology of male infertility. However, the influence of chromosome aberrations and polymorphisms on sperm motility and morphology remains controversial. Data on ART treatment outcomes in infertile couples affected by chromosome aberrations are insufficient. STUDY DESIGN, SIZE, DURATION We conducted a retrospective study involving 17 054 patients affected by infertility who underwent karyotyping in our center between January 2020 and May 2022. PARTICIPANTS/MATERIALS, SETTING, METHODS Karyotyping was performed on 17 054 patients with reproductive failure. All patients were from the central regions of China. The following data were collected from a medical records system using patient identification numbers: couples’ ages, history of pregnancy and childbirth, type of infertility, years of infertility, cause of infertility, chromosome karyotypes, semen analysis results, assisted reproductive techniques performed, and treatment outcomes of ART. MAIN RESULTS AND THE ROLE OF CHANCE The incidence of chromosome aberrations was 2.04%; 2.49% in men and 1.57% in women. By analyzing the relationships between chromosome aberrations/polymorphisms and abnormal semen parameters, we found that there were significantly higher rates of asthenozoospermia, oligospermia, and teratozoospermia among men with Robertsonian translocations and sex chromosomal structural aberrations compared with those with normal karyotypes. Higher rates of asthenozoospermia and teratozoospermia were also observed among men with autosomal reciprocal translocations. The incidence of chromosome aberrations in azoospermic men (13.75%), and in men with cryptozoospermia or severe oligospermia (6.97%) was significantly higher than that in men with mild oligospermia or normospermia (0.88–2.12%). In addition, we found that the progressive movement of sperm is impaired in men with Chromosome 21 polymorphisms compared with men with normal karyotypes (39.46% ± 20.51% vs 48.61% ± 18.76%, P = 0.026). The percentage of morphologically normal forms was lower in the chromosomal polymorphism group than in the normal karyotype group (5.01% ± 2.41% vs 5.59% ± 2.14%, P = 0.001), especially in men with polymorphisms on Chromosome 9 (enlarged Chromosome 9 heterochromatin [9qh+]: 4.48% ± 2.22% vs 5.59% ± 2.14%, P = 0.006; pericentric inversion of Chromosome 9 [inv(9)]: 5.09% ± 3.11% vs 5.59% ± 2.14%, P = 0.008). ART treatment was successful in 36.00% of couples affected by chromosome aberrations. However, couples affected by reciprocal translocations achieved a lower pregnancy rate (24.07%), which may be due to the lower euploidy rates (27.31%) when compared with that in other chromosome aberrations. LIMITATIONS, REASONS FOR CAUTION First, although the initial cohort was large, chromosome aberrations were identified in a small number of patients. Second, the observational nature of the study design is limiting. Third, the couples affected by infertility in this study were all outpatients that did not undergo identical comprehensive examinations except for karyotyping, leading to the incomplete collection of medical records. Also, the population included in this study mainly focused on couples affected by infertility, which may not be included in the European Association of Urology (EAU) recommendation on male infertility. WIDER IMPLICATIONS OF THE FINDINGS Men with chromosome aberrations or polymorphisms have an increased risk of semen quality impairment and infertility. Constitutional chromosome analysis is recommended for men affected by infertility and severe oligospermia or azoospermia to facilitate early and appropriate guidance for the most suitable treatment. Carriers of chromosome aberrations can achieve acceptable pregnancy outcomes through IVF. However, couples affected by reciprocal translocations have lower pregnancy rates, and more treatment cycles are needed before a successful pregnancy. A possible explanation may be the fewer euploid embryos obtained. STUDY FUNDING/COMPETING INTEREST(S) This work was supported by Grant 2021YFC2700603 from the National Key Research & Development Program of China. The authors declare no conflicts of interest. TRIAL REGISTRATION NUMBER N/A.
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Pharmawati, Made, Ni Nyoman Wirasiti, and Luh Putu Wrasiati. "Genotoxic and antigenotoxic potential of encapsulated Enhalus acoroides (L. f.) Royle leaves extract against nickel nitrate." Caryologia 75, no. 2 (September 21, 2022): 89–99. http://dx.doi.org/10.36253/caryologia-1571.
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Several environmental pollutants can cause damage to chromosomes, one of which is the heavy metal NiNO3. Some plant extracts have antigenotoxic properties that result in a decrease in chromosomal damage. Member of flowering plants that need to be tested is seagrass. One seagrass species is Enhalus acoroides which was found to contain phytochemical compounds. This study aimed to analyse the genotoxic effect and the potential of encapsulated E. acoroides leaf extract as antigenotoxic against nickel nitrate NiNO3. The extraction was conducted using a mixture of chloroform and ethanol, and crude extract encapsulated using maltodextrin and tween 80. Chromosomal aberrations were evaluated using the squash technique of Allium cepa var. aggregatum root tips. Triphenyltetrazolium chloride and Evans Blue staining were used to observe mitochondrial and apoptotic activities. The results showed that at higher concentrations (250 ppm and 500 ppm), the encapsulated E. acoroides extract decreased mitotic indices; however, no chromosome aberration observed. NiNO3 itself induced a genotoxic effect as observed by low mitotic index and a high percentage of chromosome aberration. The modulation of NiNO3 effect by adding the encapsulated E. acoroides extract at low concentration (100 ppm) increased mitotic index compared to treatment with Ni alone, but did not reduce chromosome aberration. Simultaneous encapsulated E. acoroides extract and Ni treatment, significantly reduced nuclear fragmentation and nuclear lesion. The encapsulated E. acoroides extract can repair several types of nuclear damage but cannot minimise chromosomal damage.
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Sosyukin, A. E., L. G. Arzhavkina, A. B. Verveda, V. F. Pimburskiy, A. N. Zhekalov, and T. V. Kharchenko. "Cytogenetic alterations in the conversion facility workers." Bulletin of the Russian Military Medical Academy 19, no. 2 (June 15, 2017): 82–85. http://dx.doi.org/10.17816/brmma623220.
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Chromosomal aberrations analysis was performed in peripheral blood lymphocytes of the two groups of Siberian Chemical plant employers – sublimation factory staff and the administration. Chromosomal aberrations frequency (7,24±0,048 per 100 cells) in the sublimation factory staff were significantly (р0,001) increased relative to the administration group (1,29±0,66 per 100 cells) mainly because increasing of single fragments. This type of chromosomal aberrations in staff was 6,4±0,41 per 100 cells vs. 1±0,52 in the administration group (p0,001). The rates of chromatid and chromosome types of chromosomal aberrations were comprised. The high level of chromosomal aberrations in the sublimation factory staff indicate to mutagenicity of occupational factors of the factory. Low level of chromosome type of chromosomal aberrations indicate an absence of important radiation exposure. Bias of the chromatid type of chromosomal aberrations allows proposing of the leading role of non-radiation factors in the formation of genotoxic effects in the sublimation factory staff. It draws attention to issues of chemical safety of the enterprise. These results suggest the need for regular cytogenetic monitoring at the Siberian Chemical Plant, even under favorable radiological situation.
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Bagatska, N. V., V. E. Nefidova, and O. V. Medzianovska. "Features of the chromosomal apparatus in patients with juvenile idiopathic arthritis with concomitant multifactorial pathology." Faktori eksperimental'noi evolucii organizmiv 24 (August 30, 2019): 193–96. http://dx.doi.org/10.7124/feeo.v24.1100.
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Aim. To determine the level of chromosomal disorders in peripheral blood lymphocytes of children and adolescents with juvenile idiopathic arthritis with concomitant multifactorial pathology in vitrо. Methods. Cytogenetic analysis was carried out in patients with juvenile idiopathic arthritis with concomitant multifactorial pathology in vitro, using a common methodology. Statistical analysis of the results of research was carried out using Excel software package and SPSS Statistics 17.0. Results. Chromosomal aberrations in peripheral blood lymphocytes were revealed in 100 % of patients. The general level of chromosomal abnormalities in the patients with concomitant pathology was 5.57 per 100 cells, and in the comparison group – 4.10 per 100 cells. In both groups aberrations of chromatid type prevailed. Conclusions. In patients with juvenile idiopathic arthritis, accompanied by different multifactorial disorders, spontaneous level of chromosomal abnormalities in blood lymphocytes in vitro was 1.4 times higher compared to the level of chromosomal aberrations in patients without concomitant pathology. The frequency of chromatid type aberrations was higher than the chromosome type aberrations rate in 1.6 times in the main group and in 2.2 times in the comparison group.
Keywords: juvenile idiopathic arthritis, children, adolescents, chromosomes, aberrations, concomitant multifactorial pathology.
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Albert, Patrice S., Tao Zhang, Kassandra Semrau, Jean-Marie Rouillard, Yu-Hsin Kao, Chung-Ju Rachel Wang, Tatiana V. Danilova, Jiming Jiang, and James A. Birchler. "Whole-chromosome paints in maize reveal rearrangements, nuclear domains, and chromosomal relationships." Proceedings of the National Academy of Sciences 116, no. 5 (January 17, 2019): 1679–85. http://dx.doi.org/10.1073/pnas.1813957116.
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Whole-chromosome painting probes were developed for each of the 10 chromosomes of maize by producing amplifiable libraries of unique sequences of oligonucleotides that can generate labeled probes through transcription reactions. These paints allow identification of individual homologous chromosomes for many applications as demonstrated in somatic root tip metaphase cells, in the pachytene stage of meiosis, and in interphase nuclei. Several chromosomal aberrations were examined as proof of concept for study of various rearrangements using probes that cover the entire chromosome and that label diverse varieties. The relationship of the supernumerary B chromosome and the normal chromosomes was examined with the finding that there is no detectable homology between any of the normal A chromosomes and the B chromosome. Combined with other chromosome-labeling techniques, a complete set of whole-chromosome oligonucleotide paints lays the foundation for future studies of the structure, organization, and evolution of genomes.