Academic literature on the topic 'Chromosome aberrations'

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Journal articles on the topic "Chromosome aberrations"

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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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Dissertations / Theses on the topic "Chromosome aberrations"

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TELLO, CAJIAO JOHN JAMES. "Biophysical modelling of radiation-induced chromosome aberrations." Doctoral thesis, Università degli studi di Pavia, 2019. http://hdl.handle.net/11571/1291026.

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Anderson, Rhona M. "Complex chromosome aberrations induced by densely ionising radiation." Thesis, Brunel University, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.412322.

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Huang, H. E. "Chromosome aberrations targeting the NRG1 gene in cancer." Thesis, University of Cambridge, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.604700.

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Thirty-four breast and nine pancreatic cancer cell lines were surveyed for alterations of the NRG1 gene by fluorescence in situ hybridization (FISH). A recent chromosome translocation breakpoint that targets the NRG1 gene was found in five breast and two pancreatic lines. High-resolution mapping by two-colour FISH showed that the breakpoints were clustered in a 1.1 Mb interval within NRG1. RT-PCR showed an extensive complexity of NRG1 transcripts in the translocation-positive lines, suggesting that expression of the ligand is a consequence of these structural arrangements. This study was extended to primary tumour material to confirm the presence and prevalence of NRG1 translocation in uncultured cancer cells. I designed a FISH strategy (using a custom FISH probe-the Neuprobe), which was used in a high-throughput manner on archival paraffin embedded material in the form of tissue microarrays (TMAs).A survey of 339 primary breast carcinomas identified a disruption targeting NRG1 in approximately 6% of all cases examined. The common abnormality seen was a deletion in the 5’ end of the gene, often accompanied by amplification of the 3’ end. Genomic alteration of NRG1 was associated with ectopic expression of NRG1 α and β isoforms. Fine mapping confirmed that these breakpoints cluster within the same region seen in cell lines. These results were independently validated by array-based CGH, using a custom made array with overlapping BACS spanning 8p12. NRG1 translocation was associated with high-grade tumours, low HER2 expression, and high expression levels of FGFR1, TACC (both in close genomic proximity to NRG1). A further survey of 242 primary ovarian tumours identified the same abnormality in 10% of tumours.
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Crouch, Joelle H. "Chromosome aberrations in field strains of Blattella germanica." Thesis, Virginia Tech, 1993. http://hdl.handle.net/10919/42132.

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Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.

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Thesis (PhD (Psychiatry))--Stellenbosch University, 2008.
BACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia population. AIM: The aim of the study was to combine genotypic and phenotypic data, collected in a homogenous population in a structured manner, with the hope of characterising an endophenotype that could be used for more accurate identification of individuals with possible chromosomal abnormalities. METHODOLOGY: A structured clinical interview was conducted on 112 Xhosa schizophrenia patients. (Diagnostic Interview for Genetic Studies, including Schedules for the Assessment of Negative and Positive Symptoms.) Blood samples (karyotyping and/or FISH analysis) as well as urine samples (drug screening) were obtained and nine head and facial measurements were performed. Descriptive statistics were compiled with reference to demographic, clinical and morphological variables. Comparisons between mean differences for these variables were made.
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AUFFRET, PASCALE. "Malformations et tube neural et aberrations chromosomiques." Rennes 1, 1993. http://www.theses.fr/1993REN1M078.

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Anderlid, Britt-Marie. "Cryptic chromosome abnormalities in idiopathic mental retardation /." Stockholm : [Karolinska institutets bibl.], 2001. http://diss.kib.ki.se/2001/91-7349-097-0/.

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Calero, Moreno Teresa. "Genetic changes in childhood acute lymphoblastic leukaemia and other lymphoid malignancies /." Stockholm, 2001. http://diss.kib.ki.se/2001/91-628-4625-6/.

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Koen, Liezl. "Chromosomal aberrations in the Xhosa shizophrenia population /." Link to the online version, 2008. http://hdl.handle.net/10019/1697.

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Fujioka, Kaoru. "Centrosome aberrations and tumor development /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-627-8/.

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Books on the topic "Chromosome aberrations"

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Bhat, Tariq Ahmad, and Aijaz Ahmad Wani, eds. Chromosome Structure and Aberrations. New Delhi: Springer India, 2017. http://dx.doi.org/10.1007/978-81-322-3673-3.

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A, Sandberg Avery, ed. The Y chromosome. New York: A.R. Liss, 1985.

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G, Obe, and Natarajan A. T, eds. Chromosomal aberrations: Basic and applied aspects. Berlin: Springer-Verlag, 1990.

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1963-, Johansson Bertil, and Mertens Fredrik, eds. Catalog of chromosome aberrations in cancer. 5th ed. New York: Wiley-Liss, 1994.

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Felix, Mitelman, ed. Catalog of chromosome aberrations in cancer. 2nd ed. New York: Liss, 1985.

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T, Leyden Guy, ed. Genetic translocations and other chromosome aberrations. New York: Nova Biomedical Books, 2008.

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György, Fekete. Congenital chromosome aberrations and tumour predisposition. Budapest: Adadémiai Kiadó, 1990.

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Bullerdiek, J., and S. Bartnitzke, eds. Chromosome 12 Aberrations in Human Solid Tumors. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-662-06255-5.

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K, Vig Baldev, and NATO Advanced Research Workshop on Chromosome Segregation and Aneuploidy (1992 : Aghia Pelagia, Greece), eds. Chromosome segregation and aneuploidy. Berlin: Springer-Verlag, 1993.

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1926-, Hirschhorn Kurt, Paul Natalie W, and March of Dimes Birth Defects Foundation., eds. A guide to human chromosome defects. 3rd ed. White Plains, N.Y. (1275 Mamaroneck Ave., White Plains 10605): March of Dimes Birth Defects Foundation, 1992.

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Book chapters on the topic "Chromosome aberrations"

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Kiefer, Jürgen. "Chromosome Aberrations." In Biological Radiation Effects, 182–91. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-83769-2_11.

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Behrend, Claudia, Javad Karimzad Hagh, Parvin Mehdipour, and Gesa Schwanitz. "Structural Chromosome Aberrations." In Human Chromosome Atlas, 3–9. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-54099-3_2.

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Miller, Orlando J., and Eeva Therman. "Chromosome Structural Aberrations." In Human Chromosomes, 187–205. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_13.

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Therman, Eeva. "Chromosome Structural Aberrations." In Human Chromosomes, 65–77. New York, NY: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-0269-8_7.

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Therman, Eeva, and Millard Susman. "Chromosome Structural Aberrations." In Human Chromosomes, 93–106. New York, NY: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4684-0529-3_9.

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Mitelman, F. "Patterns of Chromosome Variation in Neoplasia." In Chromosomal Aberrations, 86–100. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_10.

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Palitti, F., F. Degrassi, R. De Salvia, M. Fiore, and C. Tanzarella. "Inhibitors of DNA Topoisomerases and Chromosome Aberrations." In Chromosomal Aberrations, 50–60. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_6.

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Drets, M. E., G. A. Folle, and F. J. Monteverde. "Quantitative Detection of Chromosome Structures by Computerized Microphotometric Scanning." In Chromosomal Aberrations, 1–12. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_1.

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Awa, A. A. "Chromosome Aberrations in A-Bomb Survivors, Hiroshima and Nagasaki." In Chromosomal Aberrations, 180–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_18.

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Hittelman, W. N., N. Cheong, H. Y. Sohn, J. S. Lee, J. D. Tigaud, and S. Vadhan-Raj. "Tumorigenesis and Tumor Response: View from the (Prematurely Condensed) Chromosome." In Chromosomal Aberrations, 101–12. Berlin, Heidelberg: Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-642-75682-5_11.

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Conference papers on the topic "Chromosome aberrations"

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DiPierdomenico, Julia, Hao Ying, Feng Lin, and Henry H. Q. Heng. "A Mathematical Model Relating Chromosome Aberrations to Cancer Progression." In Conference Proceedings. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 2006. http://dx.doi.org/10.1109/iembs.2006.260468.

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DiPierdomenico, Julia, Hao Ying, Feng Lin, and Henry H. Q. Heng. "A Mathematical Model Relating Chromosome Aberrations to Cancer Progression." In Conference Proceedings. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 2006. http://dx.doi.org/10.1109/iembs.2006.4397833.

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Shevtsova, Natalie L., Dmitriy I. Gudkov, and Andrian A. Yavnyuk. "Some Aspects of Radioecological Monitoring of High Aquatic Plants From Water-Bodies Within the Chernobyl Accident Exclusion Zone." In ASME 2009 12th International Conference on Environmental Remediation and Radioactive Waste Management. ASMEDC, 2009. http://dx.doi.org/10.1115/icem2009-16368.

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The impact analysis of low doses of ionizing radiation on the breathers in natural populations is an important part of radiobiological studies of non-human biota. The main aim of our studies was to investigate some cytogenetic, morphological and reproductive rates of the common reed (Phragmites australis (Cav.) Trin. ex. Steud.) from different water bodies within the Chernobyl accident exclusion zone. The absorbed dose rate for littoral emergent plants in sampling water bodies was varied from 1.3E−02 to 1.6E−01 Gy/h. The rate and main types of chromosome aberrations in roots meristems, morphological damages in seed germs, as well as rates of germinating ability and power were analyzed. There were registered rather low rate of germinating ability (14–48%) and germinating power (&lt;1) of seeds from all sampling water bodies with high levels of radioactive contamination in comparison to control ones. Against the general suppressed background the effect of relative stimulation of more affected seeds was observed. With increase of absorbed dose in range of 1.3E−02–1.6E−01 Gy/h the number of germinated seeds was increased. At the same time the number of morphological damages of seeds was increased as well. There was determined the positive correlation between absorbed dose rate and chromosome aberration rate in roots of the common reed from sampling water bodies. The highest rate of chromosome aberrations (up to 17%) were registered in plants with high level of morphological deviations in seeds germs. The data obtained from the complex analysis of natural populations of the common reed from the radioactive contaminated water bodies testify about rather high level of genetic efficiency of low doses of long-term exposure.
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Abe, Yu, Hideyoshi Noji, Misaki Sugai, Yumiko Kurosu, Takashi Ohba, Aki Yanagi, Yukari Yanai, et al. "Abstract 853: Investigation of the cumulative number of chromosome aberrations induced by three consecutive CT scans." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-853.

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Andriano, Nellina, Paola Bonaccorso, Valeria Iachelli, Manuela La Rosa, Emanuela Cannata, and Luca Lo Nigro. "Abstract 2428: Genetic aberrations in the DNA repair pathway among children with Philadelphia chromosome positive leukemias." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-2428.

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Kotoula, V., M. Bobos, AG Eleftheraki, E. Timotheadou, E. Razis, A. Goussia, S. Levva, KT Kalogeras, D. Pectasides, and G. Fountzilas. "Abstract P1-07-15: Revisiting chromosome 17q copy number aberrations in early high-risk breast cancer." In Abstracts: Thirty-Fifth Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 4‐8, 2012; San Antonio, TX. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/0008-5472.sabcs12-p1-07-15.

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Anderson, Christopher B., Michael Lipsky, Subhadra V. Nandula, Freeman E. Christopher, Matthews Thomas, Caitlin E. Walsh, Gen Li, et al. "Abstract 3415: Cytogenetics of renal oncocytomas identify three distinct and mutually exclusive diagnostic classes of chromosome aberrations." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-3415.

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Manti, L., F. M. Perozziello, and G. Grossi. "Chromosome aberrations and cellular premature senescence as radiation-induced sub-lethal effects: Implications for laser-driven charged-particle radiotherapy." In 2ND ELIMED WORKSHOP AND PANEL. AIP, 2013. http://dx.doi.org/10.1063/1.4816613.

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Wong, Jason Y., Mitchell Machiela, Weiyin Zhou, Wei Jie Seow, Bryan Bassig, Jinming Zhang, Meredith Yeager, et al. "Abstract 3369: Mosaic chromosome X copy-number aberrations in leukocytes of never-smoking lung cancer patients: The Female Lung Cancer Consortium in Asia (FLCCA)." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-3369.

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Timofeeva, A. A., O. A. Soboleva, and E. A. Astaf'eva. "THE LEVEL OF CHROMOSOMAL ABERRATIONS AND THE DOSE OF ACTIVE RIBOSOMAL GENES IN COAL MINE WORKERS." In I International Congress “The Latest Achievements of Medicine, Healthcare, and Health-Saving Technologies”. Kemerovo State University, 2023. http://dx.doi.org/10.21603/-i-ic-132.

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Purpose: to study the relationship between the dose of active ribosomal genes and the level of chromosomal aberrations in coal mine workers. Chromosomal aberrations were studied in 357 miners and 736 men who do not work at industry. The dose of active ribosomal assessed in 154 miners and 91 people from the comparison group. Identified increase in the frequency of occurrence of single fragments in workers with an average dose of active ribosomal genes.
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Reports on the topic "Chromosome aberrations"

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Naylor, Susan L. Y Chromosome Aberrations in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 2001. http://dx.doi.org/10.21236/ada404706.

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Naylor, Susan L. Y Chromosome Aberrations in Prostate Cancer. Fort Belvoir, VA: Defense Technical Information Center, September 2004. http://dx.doi.org/10.21236/ada431579.

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Song, Jian. Test for Chemical Induction of Chromosome Aberrations in Cultured Chinese Hamster Ovary (CHO) Cells with and without Metabolic Activation, Test Article: 3-Nitro-1,2,4-Triazol-5-one (NTO). Fort Belvoir, VA: Defense Technical Information Center, October 2008. http://dx.doi.org/10.21236/ada518834.

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Brenner, David J. MFISH Measurements of Chromosomal Aberrations Individuals Exposed in Utero to Gamma-ray Doses from 5 to 20 cGy. Office of Scientific and Technical Information (OSTI), November 2009. http://dx.doi.org/10.2172/967363.

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Song, Jian. Test for Chemical Induction of Chromosome Aberration in Cultured Chinese Hamster Ovary (CHO) Cells With and Without Metabolic Activation. Test Article: N,N,N',N'-tetramethyl Ethanediamine (TMEDA). Fort Belvoir, VA: Defense Technical Information Center, June 2008. http://dx.doi.org/10.21236/ada519474.

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Oxidative DNA damage leading to chromosomal aberrations and mutations. Organisation for Economic Co-Operation and Development (OECD), July 2023. http://dx.doi.org/10.1787/399d2c34-en.

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