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Artykuły w czasopismach na temat „Additional chromosomes”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Tez, Coşkun, Akalin Hilal, and Münife Erkekkardeş. "Additional karyological dataon goitered gazelle, Gazella subgutturosa, from Turkey." Archives of Biological Sciences 61, no. 1 (2009): 45–48. http://dx.doi.org/10.2298/abs0901045t.

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The chromosomes of goitered gazelle, Gazella subgutturosa, in Turkey were karyotyped on the basis of two female specimens. Bothspecimens have 2n = 30 with NF = 60 and NFa = 56. All chromosomes are biarmed. The two female specimens of Turkish G. subgutturosa have a smaller diploid chromosome number compared to those of two males previously reported. This chromosomal variation in Turkish G. subgutturosa may be important for its conservation biology.

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Tamang, Sonam. "Principles and Applications of Fetal Chromosome Number and Structure Analysis." Sriwijaya Journal of Obstetrics and Gynecology 1, no. 2 (2023): 39–43. http://dx.doi.org/10.59345/sjog.v1i2.83.

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A crucial diagnostic technique employed in prenatal diagnosis is examining the quantity and arrangement of fetal chromosomes. The fundamental premise of this study is to determine the chromosomal count in the fetal cells and detect any genetic or chromosomal abnormalities that may be present. A total of 46 chromosomes are typically present in the human body, organized into 23 pairs. These pairs include one pair of sex chromosomes and 22 pairs of autosomal chromosomes. This study enables the identification of chromosomal abnormalities, such as trisomy (the presence of an additional chromosome)

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3

Kulbachuk, N. V., S. V. Matviiuk, S. V. Bilokon, and O. L. Sechnyak. "The kariotype variability in children with Down syndrome from the Odesa region." Zaporozhye Medical Journal 23, no. 1 (2021): 77–82. http://dx.doi.org/10.14739/2310-1210.2021.1.224888.

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The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was

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4

Iannucci, Alessio, Marie Altmanová, Claudio Ciofi, et al. "Isolating Chromosomes of the Komodo Dragon: New Tools for Comparative Mapping and Sequence Assembly." Cytogenetic and Genome Research 157, no. 1-2 (2019): 123–31. http://dx.doi.org/10.1159/000496171.

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We developed new tools to build a high-quality chromosomal map of the Komodo dragon (Varanus komodoensis) available for cross-species phylogenomic analyses. First, we isolated chromosomes by flow sorting and determined the chromosome content of each flow karyotype peak by FISH. We then isolated additional Komodo dragon chromosomes by microdissection and amplified chromosome-specific DNA pools. The chromosome-specific DNA pools can be sequenced, assembled, and mapped by next-generation sequencing technology. The chromosome-specific paint probes can be used to investigate karyotype evolution thr

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5

Spies, J. J., E. Van der Merwe, H. Du Plessis, and E. J. L. Saayman. "Basic chromosome numbers and polyploid levels in some South African and Australian grasses (Poaceae)." Bothalia 21, no. 2 (1991): 163–70. http://dx.doi.org/10.4102/abc.v21i2.882.

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Chromosome numbers of 46 specimens of grasses, involving 24 taxa from South Africa and Australia, have been determined during the present study. For the first time chromosome numbers are given for Eragrostis sarmentosa (Thunb.) Trin. (n = 20). Panicum aequinerve Nees (n = 18), Digitaria argyrograpta (Nees) Stapf (n = 9) and D. maitlandii Stapf C.E. Hubb. (n = 9). Additional polyploid levels are described for Diplachne fusca (L.) Beauv. ex Roem. Schult. (n = 10) and Digitaria diagonalis (Nees) Stapf var. diagonalis (n = 9).B-chromosomes were observed in several different specimens. The presence

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6

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 (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-b

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Brandler, O. V., and A. V. Blekhman. "Karyotype and molecular genetic differentiation of a 24-chromosomal form of the gray hamster <i>Nothocricetulus migratorius</i> from the Tien Shan." Genetika 60, no. 7 (2024): 107–11. http://dx.doi.org/10.31857/s0016675824070102.

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The widespread Palaearctic rodent species gray hamster Nothocricetulus migratorius has a karyotype with a stable number of chromosomes 2n = 22 throughout the entire range of its habitat. We found gray hamsters with diploid number of chromosomes 2n = 24 locally distributed in the Qurama Ridge of the Tyan Shan. A new karyotype and analysis of G- and NORs-bands of differentially stained chromosome sets were described for the first time. The described karyotype differs from the 22-chromosomal karyotype of gray hamsters by the Y-chromosome morphology and the presence of an additional pair of hetero

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8

Yen, Jui-Hung, Shao-Yin Chu, Yann-Jang Chen, et al. "A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions." Diagnostics 12, no. 8 (2022): 1900. http://dx.doi.org/10.3390/diagnostics12081900.

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Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs) are structural alterations involving three or more chromosomal breakpoints between at least two chromosomes. Here, we present a 3-year-old boy exhibiting multiple congenital malformations and developmental delay. The cytogenetic analysis found a highly complex CCR inherited from the mother involving four chromosomes and five breakpoints due to

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Malleret, Matías, Carolina Labaroni, Gabriela Verónica García, Juan Ferro, Dardo Andrea Marti, and Cecilia Lanzone. "Chromosomal variation in Argentine populations of Akodon montensis Thomas, 1913 (Rodentia, Cricetidae, Sigmodontinae)." Comparative Cytogenetics 10, no. (1) (2016): 129–40. https://doi.org/10.3897/CompCytogen.v10i1.6420.

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The genus Akodon Meyen, 1833 is one of the most species-rich among sigmodontine rodents and has great chromosome variability. Akodon montensis has a relatively broad distribution in South America, and Argentine populations are located in the southernmost region of its range. Brazilian populations have important chromosomal variability, but cytogenetic data from Argentina are scarce. We performed a chromosome characterization of natural populations of A. montensis using conventional staining, C-banding, Ag-NORs and base-specific fluorochromes. A total of 31 specimens from five localities of Mis

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10

Favarato, Ramon M., Leila Braga Ribeiro, Rafaela P. Ota, Celeste M. Nakayama, and Eliana Feldberg. "Cytogenetic Characterization of Two Metynnis Species (Characiformes, Serrasalmidae) Reveals B Chromosomes Restricted to the Females." Cytogenetic and Genome Research 158, no. 1 (2019): 38–45. http://dx.doi.org/10.1159/000499954.

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Karyotypes and chromosomal characteristics with focus on B chromosomes of 2 species of the serrasalmid genus Metynnis, namely M. lippincottianus and M. maculatus, were examined using conventional (C-banding) and molecular (FISH mapping of minor and major rDNAs and Rex1, Rex3, and Rex6 retrotransposable elements) protocols. Both species possessed a diploid chromosome number of 2n = 62 and karyotypes composed of 32 metacentric + 28 submetacentric + 2 subtelocentric and 32 metacentric + 26 submetacentric + 4 subtelocentric, respectively; one small B element was found in the female genome of M. li

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Li, J., D. L. Klindworth, F. Shireen, X. Cai, J. Hu, and S. S. Xu. "Molecular characterization and chromosome-specific TRAP-marker development for Langdon durum D-genome disomic substitution lines." Genome 49, no. 12 (2006): 1545–54. http://dx.doi.org/10.1139/g06-114.

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The aneuploid stocks of durum wheat ( Triticum turgidum L. subsp. durum (Desf.) Husnot) and common wheat ( T. aestivum L.) have been developed mainly in ‘Langdon’ (LDN) and ‘Chinese Spring’ (CS) cultivars, respectively. The LDN-CS D-genome chromosome disomic substitution (LDN-DS) lines, where a pair of CS D-genome chromosomes substitute for a corresponding homoeologous A- or B-genome chromosome pair of LDN, have been widely used to determine the chromosomal locations of genes in tetraploid wheat. The LDN-DS lines were originally developed by crossing CS nulli-tetrasomics with LDN, followed by

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12

Kartapradja, Hannie, Nanis Sacharina Marzuki, Mark D. Pertile, et al. "Exceptional Complex Chromosomal Rearrangements in Three Generations." Case Reports in Genetics 2015 (2015): 1–5. http://dx.doi.org/10.1155/2015/321014.

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We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found t

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13

Chassovnikarova, T., Nasko Atanasov, and H. Dimitrov. "Chromosome polymorphism in Bulgarian populations of the striped field mouse (Apodemus agrarius Pallas 1771)." Comparative Cytogenetics 3, no. (1) (2009): 1–9. https://doi.org/10.3897/compcytogen.v3i1.2.

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Chromosome polymorphism in Bulgarian populations of the striped field mouse (<em>Apodemus agrarius</em> Pallas, 1771) has been described. The diploid chromosome number is 2n=48 (NFa = 54). In the karyotype of 3 specimens from the Iskar region, the presence of an additional B chromosome has been established for the first time. The autosomes are 19 acrocentric pairs, continuously decreasing in size, and 4 pairs of bi-armed chromosomes, barely distinguishable by size and location of the centromere. Specimens with 3 pairs of metacentric chromosomes were firstly described in Bulgaria for the region

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14

Liu, Bo, Sui Wang, Xiaoyan Tao, Caixia Liu, Guanzheng Qu, and Quanwen Dou. "Molecular Karyotyping on Populus simonii × P. nigra and the Derived Doubled Haploid." International Journal of Molecular Sciences 22, no. 21 (2021): 11424. http://dx.doi.org/10.3390/ijms222111424.

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The molecular karyotype could represent the basic genetic make-up in a cell nucleus of an organism or species. A doubled haploid (DH) is a genotype formed from the chromosome doubling of haploid cells. In the present study, molecular karyotype analysis of the poplar hybrid Populus simonii × P. nigra (P. xiaohei) and the derived doubled haploids was carried out with labeled telomeres, rDNA, and two newly repetitive sequences as probes by fluorescence in situ hybridization (FISH). The tandem repeats, pPC349_XHY and pPD284_XHY, with high-sequence homology were used, and the results showed that th

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15

Boroń, Alicja, Anna Grabowska, Aneta Spóz, and Anna Przybył. "B Chromosomes and Cytogenetic Characteristics of the Common Nase Chondrostoma nasus (Linnaeus, 1758)." Genes 11, no. 11 (2020): 1317. http://dx.doi.org/10.3390/genes11111317.

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Supernumerary B chromosomes (Bs) are very promising structures, among others, in that they are an additional genomic compartment for evolution. In this study, we tested the presence and frequency of B chromosomes and performed the first cytogenetic examination of the common nase (Chondrostoma nasus). We investigated the individuals from two populations in the Vistula River basin, in Poland, according to the chromosomal distribution of the C-bands and silver nucleolar organizer regions (Ag-NORs), using sequential staining with AgNO3 and chromomycin A3 (CMA3). Furthermore, we analyzed the chromo

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Largo-Peralta, Azucena, Milena Rondón-Lagos, Diana Sánchez-Peñarete, Katherin Cordón, Cladelis Rubio, and Maribel Forero-Castro. "Patterns of chromosome abnormalities in a sample of Colombian patients with chronic myeloid leukemia." Universitas Scientiarum 28, no. 3 (2023): 336–59. http://dx.doi.org/10.11144/javeriana.sc283.poca.

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Chronic Myeloid Leukemia (CML) is characterized by the presence of the Philadelphia (Ph) chromosome, resulting from a translocation between chromosomes 9 and 22 that gives rise to the BCR-ABL1 fusion gene. The Ph chromosome is present in 95 % of CML cases. In 5 %-10 % of these cases Ph variants occur and, approximately 5 % of these cases present with additional chromosomal abnormalities (ACAs). In this work we describe the prevalence of chromosome abnormalities in a sample of Colombian CML patients. A descriptive cross-sectional study was conducted, analyzing cytogenetic and molecular data fro

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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 (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

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Torres, Elodia, Stella Rodríguez, Norma Monjagata, Silvia Fernández, María Beatriz NP De Herrreros, and Graciela Meza. "Trisomía parcial 9p derivada de una translocación recíproca 9;15, materna. Reporte de casos." Revista Facultad de Ciencias de la Salud UDES 2, no. 2 (2015): 139. http://dx.doi.org/10.20320/rfcsudes.v2i2.66.

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Objectives: to highlight the importance of performing karyotype in children with congenital malformations in order to have a confirmatory diagnosis, in parents to exclude the possibility of being carriers of chromosomal abnormalities and perform the genetic counseling. Clinical cases description: Female patient with 3 years and 2 months old to whom karyotype was performed by global neurodevelopmental delay and microcephaly, and her mother with 34 years old without any clinical manifestations, to both patients, lymphocyte culture and chromosomal analysis with a High Resolution Banding technique

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Jatt, Tahira, Ghulam Sarwar Markhand, Mushtaque Ahmed Jatoi, et al. "Karyotype Evolution and Genetic Variation in Date Palm (Phoenix dactylifera L.) Varieties Cultivated in Pakistan." Planta Animalia 4, no. 2 (2025): 145–54. https://doi.org/10.71454/pa.004.02.0112.

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Due to limited cytogenetic data, the date palm (Phoenix dactylifera L.), a monocotyledonous and dioecious species, previously had uncertain ploidy levels. This study aimed to determine the chromosome number and develop karyotypic profiles for elite commercial date palm cultivars cultivated across four provinces of Pakistan, with additional comparisons to exotic varieties. All analyzed cultivars were confirmed to be diploid, possessing a chromosome number of 2n = 36. Detailed karyotypic analyses were performed, including measurements of total chromosome length (TCL), lengths of short and long a

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de Oliveira, Mariannah Pravatti Barcellos, Rafael Kretschmer, Geize Aparecida Deon, et al. "Following the Pathway of W Chromosome Differentiation in Triportheus (Teleostei: Characiformes)." Biology 12, no. 8 (2023): 1114. http://dx.doi.org/10.3390/biology12081114.

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In this work, we trace the dynamics of satellite DNAs (SatDNAs) accumulation and elimination along the pathway of W chromosome differentiation using the well-known Triportheus fish model. Triportheus stands out due to a conserved ZZ/ZW sex chromosome system present in all examined species. While the Z chromosome is conserved in all species, the W chromosome is invariably smaller and exhibits differences in size and morphology. The presumed ancestral W chromosome is comparable to that of T. auritus, and contains 19 different SatDNA families. Here, by examining five additional Triportheus specie

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Malysheva, L., T. Sjakste, F. Matzk, M. Röder, and M. Ganal. "Molecular cytogenetic analysis of wheatbarley hybrids using genomic in situ hybridization and barley microsatellite markers." Genome 46, no. 2 (2003): 314–22. http://dx.doi.org/10.1139/g02-117.

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In the present investigation, genomic in situ hybridization (GISH) and barley microsatellite markers were used to analyse the genome constitution of wheatbarley hybrids from two backcross generations (BC1 and BC2). Two BC1 plants carried 3 and 6 barley chromosomes, respectively, according to GISH data. Additional chromosomal fragments were detected using microsatellites. Five BC2 plants possessed complete barley chromosomes or chromosome segments and six BC2 plants did not preserve barley genetic material. Molecular markers revealed segments of the barley genome with the size of one marker on

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Melo, Silvana, Ricardo Utsunomia, Manolo Penitente, et al. "B chromosome dynamics in Prochilodus costatus (Teleostei, Characiformes) and comparisons with supernumerary chromosome system in other Prochilodus species." Comparative Cytogenetics 11, no. (2) (2017): 393–403. https://doi.org/10.3897/CompCytogen.v11i2.12784.

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Within the genus Prochilodus Agassiz, 1829, five species are known to carry B chromosomes, i.e. chromosomes beyond the usual diploid number that have been traditionally considered as accessory for the genome. Chromosome microdissection and mapping of repetitive DNA sequences are effective tools to assess the DNA content and allow a better understanding about the origin and composition of these elements in an array of species. In this study, a novel characterization of B chromosomes in Prochilodus costatus Valenciennes, 1850 (2n=54) was reported for the first time and their sequence complementa

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Milioto, Vanessa, Luca Sineo, and Francesca Dumas. "Chromosome Painting in Cercopithecus petaurista (Schreber, 1774) Compared to Other Monkeys of the Cercopithecini Tribe (Catarrhini, Primates)." Life 13, no. 5 (2023): 1203. http://dx.doi.org/10.3390/life13051203.

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The Cercopithecini tribe includes terrestrial and arboreal clades whose relationships are controversial, with a high level of chromosome rearrangements. In order to provide new insights on the tribe’s phylogeny, chromosome painting, using the complete set of human syntenic probes, was performed in Cercopithecus petaurista, a representative species of the Cercopithecini tribe. The results show C. petaurista with a highly rearranged karyotype characterized by the fission of human chromosomes 1, 2, 3, 5, 6, 8, 11, and 12. These results compared with the literature data permit us to confirm the mo

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Sachwani, K. "Occurrence of high hyperdiploid karyotypes in childhood Acute Lymphoblastic Leukemia." American Journal of Clinical Pathology 162, Supplement_1 (2024): S25. http://dx.doi.org/10.1093/ajcp/aqae129.054.

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Abstract Introduction/Objective High hyperdiploidy is defined as the non-random gain of chromosomes, increasing the modal chromosome number from 46 to between 51 and 65 or 67. This condition is the most common finding in childhood acute lymphoblastic leukemia, with a good outcome. It is generally characterized by the gain of chromosomes, typically X, 4, 6, 10, 14, 17, 18, and 21. The objective of this study is to determine the frequency of high hyperdiploidy in childhood ALL. Methods/Case Report Cytogenetic results of 435 patients, reported between October 2020 and September 2022 were reviewed

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Swanepoel, A. "'n Vergelykende studie van die kariotipes van Tilapia rendalli, Tilapia sparrmanii en Oreochromis mossambicus (Cichlidae)." Suid-Afrikaanse Tydskrif vir Natuurwetenskap en Tegnologie 11, no. 3 (1992): 105–9. http://dx.doi.org/10.4102/satnt.v11i3.540.

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Optimal chromosome preparations were obtained from stimulated lymphocyte cultures with a new method based on a combination and modification of several techniques. Tilapia rendalli, T. sparrmanii and Oreochromis mossambicus have somatic chromosome numbers of 44, 42 and 44, respectively. Chromosome pairs L1 and L2 are easily identified in all the karyotypes and distinctive of the tilapias. Tilapia sparrmanii has one additional large metacentric chromosome pair(L3), which occurs concurrently with the reduction of two in the total chromosome number. The F chromosomes were divided into two groups,

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Altıner, Şule, Nüket Yürür Kutlay, and Hatice Ilgın Ruhi. "Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer." Cytogenetic and Genome Research 160, no. 1 (2020): 11–17. http://dx.doi.org/10.1159/000505805.

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Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by p

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Zerpa-Catanho, Dessireé Patricia, Tahira Jatt, and Ray Ming. "Karyotype and genome size determination of Jarilla chocola, an additional sister clade of Carica papaya." Plant Omics, no. 14(01):2021 (September 10, 2021): 50–56. http://dx.doi.org/10.21475/poj.14.01.21.p2944.

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Jarilla chocola is an herbaceous plant species that belongs to the Jarilla genus and the Caricaceae family. No information on chromosome number or genome size has been reported for J. chocola that confirms the occurrence of dysploidy events and explore the existence of heteromorphic sex chromosomes. Therefore, the total number of chromosomes of this species was determined by karyotyping and counting the number of chromosomes observed, and the genome size of female and male plants was estimated separately by flow cytometry. Results showed that J. chocola has eight pairs of chromosomes (2n = 2x

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Gunski, R. J., D. S. Ojeda, M. A. Ledesma, et al. "Comparative cytogenetics in felids (Carnivora: Felidae): Leopardus wiedii, Panthera onca, Puma concolor and Felis catus." Arquivo Brasileiro de Medicina Veterinária e Zootecnia 76, no. 1 (2024): 35–42. http://dx.doi.org/10.1590/1678-4162-13078.

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ABSTRACT This study aims to conduct a cytogenetic analysis on four South American feline species: the jaguar (Panthera onca), the puma (Puma concolor), the ocelot (Leopardus wiedii), and the domestic cat (Felis catus). We discovered that the jaguar and the puma mainly differ in their fundamental number of chromosomes. Furthermore, we observed a morphological difference in a pair of chromosomes between the jaguar and the domestic cat. This suggests that, over the course of evolution, there was a pericentric inversion in a pair of B4 group chromosomes, leading them to become part of the A group

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Arkesteijn, GJ, AC Martens, and A. Hagenbeek. "Bivariate flow karyotyping in human Philadelphia-positive chronic myelocytic leukemia." Blood 72, no. 1 (1988): 282–86. http://dx.doi.org/10.1182/blood.v72.1.282.282.

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Abstract Chromosome analysis on clinical leukemia material was done by means of flow cytometry (flow karyotyping) to investigate the applicability of this technique in the detection of leukemia-associated abnormalities. Flow karyotyping was performed on blood or bone marrow samples from eight patients with chronic myelocytic leukemia (CML) after a culture period of four days and arresting the cells in metaphase during the last 16 hours. Discontinuous density gradient centrifugation proved to be essential in removing debris and dead cells from the cell suspensions. By this procedure the mitotic

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Arkesteijn, GJ, AC Martens, and A. Hagenbeek. "Bivariate flow karyotyping in human Philadelphia-positive chronic myelocytic leukemia." Blood 72, no. 1 (1988): 282–86. http://dx.doi.org/10.1182/blood.v72.1.282.bloodjournal721282.

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Chromosome analysis on clinical leukemia material was done by means of flow cytometry (flow karyotyping) to investigate the applicability of this technique in the detection of leukemia-associated abnormalities. Flow karyotyping was performed on blood or bone marrow samples from eight patients with chronic myelocytic leukemia (CML) after a culture period of four days and arresting the cells in metaphase during the last 16 hours. Discontinuous density gradient centrifugation proved to be essential in removing debris and dead cells from the cell suspensions. By this procedure the mitotic index in

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Runge, K. W., R. J. Wellinger, and V. A. Zakian. "Effects of excess centromeres and excess telomeres on chromosome loss rates." Molecular and Cellular Biology 11, no. 6 (1991): 2919–28. http://dx.doi.org/10.1128/mcb.11.6.2919-2928.1991.

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The linear chromosomes of eukaryotes contain specialized structures to ensure their faithful replication and segregation to daughter cells. Two of these structures, centromeres and telomeres, are limited, respectively, to one and two copies per chromosome. It is possible that the proteins that interact with centromere and telomere DNA sequences are present in limiting amounts and could be competed away from the chromosomal copies of these elements by additional copies introduced on plasmids. We have introduced excess centromeres and telomeres into Saccharomyces cerevisiae and quantitated their

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Runge, K. W., R. J. Wellinger, and V. A. Zakian. "Effects of excess centromeres and excess telomeres on chromosome loss rates." Molecular and Cellular Biology 11, no. 6 (1991): 2919–28. http://dx.doi.org/10.1128/mcb.11.6.2919.

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The linear chromosomes of eukaryotes contain specialized structures to ensure their faithful replication and segregation to daughter cells. Two of these structures, centromeres and telomeres, are limited, respectively, to one and two copies per chromosome. It is possible that the proteins that interact with centromere and telomere DNA sequences are present in limiting amounts and could be competed away from the chromosomal copies of these elements by additional copies introduced on plasmids. We have introduced excess centromeres and telomeres into Saccharomyces cerevisiae and quantitated their

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Naranjo, Tomás. "Finding the Correct Partner: The Meiotic Courtship." Scientifica 2012 (2012): 1–14. http://dx.doi.org/10.6064/2012/509073.

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Homologous chromosomes are usually separated at the entrance of meiosis; how they become paired is one of the outstanding mysteries of the meiotic process. Reduction of spacing between homologues makes possible the occurrence of chromosomal interactions leading to homology detection and the formation of bivalents. In many organisms, telomere-led chromosome movements are generated that bring homologues together. Additional movements produced by chromatin conformational changes at early meiosis may also facilitate homologous contacts. Organisms used in the study of meiosis show a surprising vari

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Wenger, Sharon L., Ona C. Bleigh, and Marybeth Hummel. "Cleft Palate in a Newborn with Duplication 2(q13q23)." Cleft Palate-Craniofacial Journal 41, no. 5 (2004): 568–70. http://dx.doi.org/10.1597/03-059.1.

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Objectives A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2. Setting The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life. Results A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents’ chromosomes were normal, indicating a de novo duplication of 2q13q23. Conclusion Comparison of this case with those in the l

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Barros, Luísa Antônia Campos, Gisele Amaro Teixeira, Hilton Jeferson Alves Cardoso De Aguiar, Denilce Meneses Lopes, and Silvia Das Graças Pompolo. "Cytogenetic studies in Trachymyrmex holmgreni Wheeler, 1925 (Formicidae: Myrmicinae) by conventional and molecular methods." Sociobiology 65, no. 2 (2018): 185. http://dx.doi.org/10.13102/sociobiology.v65i2.2214.

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Over the past several decades, ant cytogenetic studies have focused on chromosome number and morphology; however, recently, additional information concerning heterochromatin composition and 45S rDNA location has become accessible. The fungus-growing ants are a peculiar ant group that cultivates fungus for food, and Trachymyrmex is suspected to be the sister group of leafcutter ants. Cytogenetic data are so far available for sixn Trachymyrmex species. The present study aimed to increase the knowledge about Trachymyrmex cytogenetics by the chromosomal characterization of Trachymyrmex holmgreni i

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McNally, Karen Perry, Michelle T. Panzica, Taekyung Kim, Daniel B. Cortes, and Francis J. McNally. "A novel chromosome segregation mechanism during female meiosis." Molecular Biology of the Cell 27, no. 16 (2016): 2576–89. http://dx.doi.org/10.1091/mbc.e16-05-0331.

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In a wide range of eukaryotes, chromosome segregation occurs through anaphase A, in which chromosomes move toward stationary spindle poles, anaphase B, in which chromosomes move at the same velocity as outwardly moving spindle poles, or both. In contrast, Caenorhabditis elegans female meiotic spindles initially shorten in the pole-to-pole axis such that spindle poles contact the outer kinetochore before the start of anaphase chromosome separation. Once the spindle pole-to-kinetochore contact has been made, the homologues of a 4-μm-long bivalent begin to separate. The spindle shortens an additi

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Totikov, Azamat, Andrey Tomarovsky, Dmitry Prokopov, et al. "Chromosome-Level Genome Assemblies Expand Capabilities of Genomics for Conservation Biology." Genes 12, no. 9 (2021): 1336. http://dx.doi.org/10.3390/genes12091336.

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Genome assemblies are in the process of becoming an increasingly important tool for understanding genetic diversity in threatened species. Unfortunately, due to limited budgets typical for the area of conservation biology, genome assemblies of threatened species, when available, tend to be highly fragmented, represented by tens of thousands of scaffolds not assigned to chromosomal locations. The recent advent of high-throughput chromosome conformation capture (Hi-C) enables more contiguous assemblies containing scaffolds spanning the length of entire chromosomes for little additional cost. The

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Rosa, Renata, Marceléia Rubert, L. Giuliano-Caetano, and I. Martins-Santos. "Differential chromosomal markers between sympatric karyomorphs of the fish Hoplias malabaricus (Bloch, 1794) (Characiformes: Erythrinidae)." Comparative Cytogenetics 4, no. (2) (2010): 175–84. https://doi.org/10.3897/compcytogen.v4i2.48.

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Cytogenetic analyses were performed on <em>Hoplias malabaricus</em> (Bloch, 1794) from the Taquari River, Parana River drainage, revealing two sympatric karyomorphs. One karyomorph was characterized by 2n = 40 m/sm and 2n = 39 m/sm chromosomes for females and males, respectively, and an X1X1X2X2/X1X2Y sex chromosome system. In the second karyomorph, specimens showed 2n = 42 m/sm chromosomes, without sex-related heteromorphism. Both karyomorphs were characterized by a distribution of heterochromatin in the pericentromeric and telomeric regions. In addition to the differences in the diploid numb

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Bracewell, Ryan, Anita Tran, Kamalakar Chatla, and Doris Bachtrog. "Sex and neo-sex chromosome evolution in beetles." PLOS Genetics 20, no. 11 (2024): e1011477. http://dx.doi.org/10.1371/journal.pgen.1011477.

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Beetles are the most species-rich group of animals and harbor diverse karyotypes. Most species have XY sex chromosomes, but X0 sex determination mechanisms are also common in some groups. We generated a whole-chromosome assembly of Tribolium confusum, which has a neo-sex chromosome, and utilize eleven additional beetle genomes to reconstruct karyotype evolution across Coleoptera. We identify ancestral linkage groups, termed Stevens elements, that share a conserved set of genes across beetles. While the ancestral X chromosome is maintained across beetles, we find independent additions of autoso

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Paim, Fabilene Gomes, Mauro Nirchio, Claudio Oliveira, and Anna Rita Rossi. "Sex Chromosomes and Internal Telomeric Sequences in Dormitator latifrons (Richardson 1844) (Eleotridae: Eleotrinae): An Insight into Their Origin in the Genus." Genes 11, no. 6 (2020): 659. http://dx.doi.org/10.3390/genes11060659.

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The freshwater fish species Dormitator latifrons, commonly named the Pacific fat sleeper, is an important food resource in CentralSouth America, yet almost no genetic information on it is available. A cytogenetic analysis of this species was undertaken by standard and molecular techniques (chromosomal mapping of 18S rDNA, 5S rDNA, and telomeric repeats), aiming to describe the karyotype features, verify the presence of sex chromosomes described in congeneric species, and make inferences on chromosome evolution in the genus. The karyotype (2n = 46) is mainly composed of metacentric and submetac

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Zhong, Gan-Yuan, Patrick E. Mcguire, Calvin O. Qualset, and Jan Dvořák. "Cytological and molecular characterization of a Triticum aestivum × Lophopyrum ponticum backcross derivative resistant to barley yellow dwarf." Genome 37, no. 5 (1994): 876–81. http://dx.doi.org/10.1139/g94-124.

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Barley yellow dwarf is the most damaging virus-caused disease in bread wheat (Triticum aestivum L.). A resistant line, SW335.1.2-13-11-1-5 (2n = 47), derived from a cross of T. aestivum × Lophopyrum ponticum was characterized by meiotic chromosome pairing, by in situ DNA hybridization and by expression of molecular markers to determine its chromosome constitution. All progeny of this line had three pairs of L. ponticum chromosomes from homoeologous chromosome groups 3, 5, and 6 and the 2n = 47 progeny had an additional L. ponticum monosome. The pairs from groups 3 and 6 were in the added state

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Zalensky, A., and I. Zalenskaya. "Organization of chromosomes in spermatozoa: an additional layer of epigenetic information?" Biochemical Society Transactions 35, no. 3 (2007): 609–11. http://dx.doi.org/10.1042/bst0350609.

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Elaborate non-random organization of human sperm chromosomes at different structural levels, starting from the DNA packing by protamines up to the higher-order chromosome configuration and nuclear positioning of chromosome territories, has been discovered. Here, we put forward a hypothesis that the unique genome architecture in sperm provides a mechanism for orchestrated unpacking and ordered activation of the male genome during fertilization, thus offering an additional level of epigenetic information that will be deciphered in the descendant cells.

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Patterer, Verena, Melanie Zenger, Susanne Schnittger, et al. "Acute Lymphoblastic Leukemia (ALL) With Low-Hypodiploid/Near-Triploid Karyotype Is a Specific Clinical Entity Characterized By a High TP53 Mutation Frequency." Blood 122, no. 21 (2013): 615. http://dx.doi.org/10.1182/blood.v122.21.615.615.

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Abstract Background B-lineage acute lymphoblastic leukemia (ALL) called B lymphoblastic leukemia/lymphoma by the WHO classification 2008 is subdivided into 5 subgroups defined by a specific translocation (t(9;22)(q34;q11); t(v;11q23); t(12;21)(p13;q22); t(5;14)(q31;q32); t(1;19)(q23;p13.1)). Two additional categories are defined on the basis of chromosome number: ALL with hyperdiploidy and hypodiploid ALL. The former group comprises a well defined genetic subset with blasts containing >50 and usually >66 chromosomes. In contrast, the hypodiploid subgroup is very heterogeneous and compris

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Angus, Robert B., and Fenglong Jia. "Triploidy in Chinese parthenogenetic Helophorus orientalis Motschulsky, 1860, further data on parthenogenetic H. brevipalpis Bedel, 1881 and a brief discussion of parthenogenesis in Hydrophiloidea (Coleoptera)." Comparative Cytogenetics 14, no. 1 (2020): 1–10. http://dx.doi.org/10.3897/compcytogen.v14i1.47656.

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The chromosomes of triploid parthenogenetic Helophorus orientalis Motschulsky, 1860 are described from material from two localities in Heilongjiang, China. 3n = 33. All the chromosomes have clear centromeric C-bands, and in the longest chromosome one replicate appears to be consistently longer than the other two. The chromosomes of additional triploid parthenogenetic H. brevipalpis Bedel, 1881, from Spain and Italy, are described. In one Italian population one of the autosomes is represented by only two replicates and another appears more evenly metacentric than in material from Spain and the

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45

Angus, Robert B., and Fenglong Jia. "Triploidy in Chinese parthenogenetic Helophorus orientalis Motschulsky, 1860, further data on parthenogenetic H. brevipalpis Bedel, 1881 and a brief discussion of parthenogenesis in Hydrophiloidea (Coleoptera)." Comparative Cytogenetics 14, no. (1) (2020): 1–10. https://doi.org/10.3897/CompCytogen.v14i1.47656.

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The chromosomes of triploid parthenogenetic Helophorus orientalis Motschulsky, 1860 are described from material from two localities in Heilongjiang, China. 3n = 33. All the chromosomes have clear centromeric C-bands, and in the longest chromosome one replicate appears to be consistently longer than the other two. The chromosomes of additional triploid parthenogenetic H. brevipalpis Bedel, 1881, from Spain and Italy, are described. In one Italian population one of the autosomes is represented by only two replicates and another appears more evenly metacentric than in material from Spain and the

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46

Teixeira, Lívia S.R., Karin Regina Seger, Cíntia Pelegrineti Targueta, Victor G. Dill Orrico, and Luciana Bolsoni Lourenço. "Comparative cytogenetics of tree frogs of the Dendropsophus marmoratus (Laurenti, 1768) group: conserved karyotypes and interstitial telomeric sequences." Comparative Cytogenetics 10, no. (4) (2016): 753–67. https://doi.org/10.3897/CompCytogen.v10i4.9972.

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The diploid number 2n = 30 is a presumed synapomorphy of Dendropsophus Fitzinger, 1843, although a noticeable variation in the number of biarmed/telocentric chromosomes is observed in this genus. Such a variation suggests that several chromosomal rearrangements took place after the evolutionary origin of the hypothetical ancestral 30-chromosome karyotype; however, the inferred rearrangements remain unknown. Distinct numbers of telocentric chromosomes are found in the two most cytogenetically studied species groups of Dendropsophus. In contrast, all three species of the Dendropsophus marmoratus

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Merante, Frank, Alessandra M. V. Duncan, Grant Mitchell, Catherine Duff, Joanna Rommens, and Brian H. Robinson. "Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene." Genome 40, no. 3 (1997): 318–24. http://dx.doi.org/10.1139/g97-044.

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The chromosomal loci corresponding to human cytochrome c oxidase (COX) subunit VIIa Liver (VIIa-L) isoform genes were determined utilizing a combined approach of genomic cloning, in situ hybridization, and somatic cell hybrid genetics. In contrast to the proposal of E. Arnaudo et al. (Gene (Amst.), 119: 299–305. 1992) that COX VIIa-L sequences are located on chromosomes 4 and 14, we found that COX VIIa-L related sequences reside on chromosome 6, while an additional COX VIIa-L cross-reacting sequence (ψ-gene) was located on chromosome 4.Key words: human, cytochrome c oxidase, gene mapping, pseu

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Brianti, Mitsue T., Galina Ananina, and Louis B. Klaczko. "Differential occurrence of chromosome inversion polymorphisms among Muller's elements in three species of the tripunctata group of Drosophila, including a species with fast chromosomal evolution." Genome 56, no. 1 (2013): 17–26. http://dx.doi.org/10.1139/gen-2012-0074.

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Detailed chromosome maps with reliable homologies among chromosomes of different species are the first step to study the evolution of the genetic architecture in any set of species. Here, we present detailed photo maps of the polytene chromosomes of three closely related species of the tripunctata group (subgenus Drosophila): Drosophila mediopunctata, D. roehrae, and D. unipunctata. We identified Muller's elements in each species, using FISH, establishing reliable chromosome homologies among species and D. melanogaster. The simultaneous analysis of chromosome inversions revealed a distribution

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Kabakci, Zeynep, Hiro Yamada, Luisa Vernizzi, et al. "Teflon promotes chromosomal recruitment of homolog conjunction proteins during Drosophila male meiosis." PLOS Genetics 18, no. 10 (2022): e1010469. http://dx.doi.org/10.1371/journal.pgen.1010469.

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Meiosis in males of higher dipterans is achiasmate. In their spermatocytes, pairing of homologs into bivalent chromosomes does not include synaptonemal complex and crossover formation. While crossovers preserve homolog conjunction until anaphase I during canonical meiosis, an alternative system is used in dipteran males. Mutant screening in Drosophila melanogaster has identified teflon (tef) as being required specifically for alternative homolog conjunction (AHC) of autosomal bivalents. The additional known AHC genes, snm, uno and mnm, are needed for the conjunction of autosomal homologs and o

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Hołówka, Joanna, and Małgorzata Płachetka. "Structure of bacterial chromosome: An analysis of DNA-protein interactions in vivo." Postępy Higieny i Medycyny Doświadczalnej 71 (December 8, 2017): 0. http://dx.doi.org/10.5604/01.3001.0010.6696.

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According to recent reports, bacterial chromosomes exhibit a hierarchical organization. The number of proteins that bind DNA are responsible for local and global organization of the DNA ensuring proper chromosome compaction. Advanced molecular biology techniques combined with high-throughput DNA sequencing methods allow a precise analysis of bacterial chromosome structures on a local and global scale. Methods such as in vivo footprinting and ChIP-seq allow to map binding sites of analyzed proteins in certain chromosomal regions or along the whole chromosome while analysis of the spatial intera

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