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Thematische Bibliographien / Chromosomes, Human, 21-22 and Y / Zeitschriftenartikel

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Zeitschriftenartikel zum Thema „Chromosomes, Human, 21-22 and Y“

Autor: Grafiati

Veröffentlicht am 28. Juli 2024

Zuletzt aktualisiert am 31. Juli 2025

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1

Clay, Oliver, and Giorgio Bernardi. "The Isochores in Human Chromosomes 21 and 22." Biochemical and Biophysical Research Communications 285, no. 4 (2001): 855–56. http://dx.doi.org/10.1006/bbrc.2001.5176.

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2

Federico, Concetta, Desiree Brancato, Francesca Bruno, Daiana Galvano, Mariella Caruso, and Salvatore Saccone. "Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect." Genes 15, no. 6 (2024): 722. http://dx.doi.org/10.3390/genes15060722.

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Chromosomal translocations can result in phenotypic effects of varying severity, depending on the position of the breakpoints and the rearrangement of genes within the interphase nucleus of the translocated chromosome regions. Balanced translocations are often asymptomatic phenotypically and are typically detected due to a decrease in fertility resulting from issues during meiosis. Robertsonian translocations are among the most common chromosomal abnormalities, often asymptomatic, and can persist in the population as a normal polymorphism. We serendipitously discovered a Robertsonian transloca

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3

Weier, Jingly F., Christy Ferlatte, Adolf Baumgartner, Ha Nam Nguyen, Beatrice A. Weier, and Heinz-Ulrich G. Weier. "Analysis of human invasive cytotrophoblasts demonstrates mosaic aneuploidy." PLOS ONE 18, no. 7 (2023): e0284317. http://dx.doi.org/10.1371/journal.pone.0284317.

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A total of 24 chromosome-specific fluorescence in situ hybridization probes for interphase nucleus analysis were developed to determine the chromosomal content of individual human invasive cytotrophoblasts derived from in vitro cultured assays. At least 75% of invasive cytotrophoblasts were hyperdiploid and the total number of chromosomes ranged from 47 to 61. The results also demonstrated that these hyperdiploid invasive cytotrophoblasts showed significant heterogeneity. The most copy number gains were observed for chromosomes 13, 14, 15, 19, 21, and 22 with average copy number greater than 2

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Häring, David, and Jaroslav Kypr. "No Isochores in the Human Chromosomes 21 and 22?" Biochemical and Biophysical Research Communications 280, no. 2 (2001): 567–73. http://dx.doi.org/10.1006/bbrc.2000.4162.

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5

Haig, David. "A brief history of human autosomes." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1388 (1999): 1447–70. http://dx.doi.org/10.1098/rstb.1999.0490.

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Comparative gene mapping and chromosome painting permit the tentative reconstruction of ancestral karyotypes. The modern human karyotype is proposed to differ from that of the most recent common ancestor of catarrhine primates by two major rearrangements. The first was the fission of an ancestral chromosome to produce the homologues of human chromosomes 14 and 15. This fission occurred before the divergence of gibbons from humans and other apes. The second was the fusion of two ancestral chromosomes to form human chromosome 2. This fusion occurred after the divergence of humans and chimpanzees

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Souza, Alan Roberto de, Aline Sayuri Minamihara, Maria Eliane Longhi Barroso, and Wagner José Martins Paiva. "Case report: A rare mosaicism on chromosome 21." Semina: Ciências Biológicas e da Saúde 38, no. 1supl (2018): 122. http://dx.doi.org/10.5433/1679-0367.2017v38n1suplp122.

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Changes in the human karyotype result in alterations with varying degrees in relation to the morphology or intellectuality of the affected individuals. In most cases, genetic alteration can lead to spontaneous abortion. Among the chromosomal anomalies, mosaicism is often found, consisting of more than one type of cell line, derived from a single zygote, that is, mosaicism is a pos zyzotic phenomenon that can originate germ cells or somatic cells. The purpose of this succinct explanation is to show the cytogenetic diagnosis of the EVS patient (1 year and 9 months old) who presented the followin

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ZHANG, L., and T. SUN. "Statistical properties of nucleotides in human chromosomes 21 and 22." Chaos, Solitons & Fractals 23, no. 3 (2005): 1077–85. http://dx.doi.org/10.1016/s0960-0779(04)00369-8.

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8

Diblík, Jan, Milan Macek, Maria-Cristina Magli, Roman Krejčí, and Luca Gianaroli. "Topology of Chromosomes 18 and X in Human Blastomeres from 3- to 4-Day-old Embryos." Journal of Histochemistry & Cytochemistry 53, no. 3 (2005): 273–76. http://dx.doi.org/10.1369/jhc.4b6509.2005.

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The positions of chromosomes 18 and X fluorescence in situ hybridization signals were analyzed in blastomeres generated from human in vitro fertilization 3- to 4-day-old embryos after preimplantation screening of aneuploidy of chromosomes 13, 16, 18, 21, 22, X, and Y. Fluorescent signal localization compared with a three-dimensional sphere model of random signal distribution revealed significant differences, providing evidence of peripheral localization of chromosome 18 in aneuploid ( p=0.0013) and aneuploid/euploid blastomeres ( p=0.0011). No differences were found in localization of chromoso

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Takai, Daiya, and Peter A. Jones. "Comprehensive analysis of CpG islands in human chromosomes 21 and 22." Proceedings of the National Academy of Sciences 99, no. 6 (2002): 3740–45. http://dx.doi.org/10.1073/pnas.052410099.

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10

Dempsey, Adam A., Noel Pabalan, HongChang Tang, and Choong-Chin Liew. "Organization of Human Cardiovascular-expressed Genes on Chromosomes 21 and 22." Journal of Molecular and Cellular Cardiology 33, no. 3 (2001): 587–91. http://dx.doi.org/10.1006/jmcc.2000.1335.

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11

Rodríguez-Ortiz, Alejandra, Julio Montoya-Villegas, Felipe García-Vallejo, and Yecid Mina-Paz. "Integrated Quantitative Neuro-Transcriptome Analysis of Several Brain Areas in Human Trisomy 21." Genes 13, no. 4 (2022): 628. http://dx.doi.org/10.3390/genes13040628.

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Background: Although Down syndrome (DS) is the most frequent human chromosomal disorder and it causes mainly intellectual disability, its clinical presentation is complex and variable. Objective: We aimed to analyze and compare the transcriptome disruption in several brain areas from individuals with DS and euploid controls as a new approach to consider a global systemic differential disruption of gene expression beyond chromosome 21. Methods: We used data from a DNA microarray experiment with ID GSE59630 previously deposited in the GEO DataSet of NCBI database. The array contained log2 values

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Guilherme, R. S., E. Klein, A. B. Hamid, et al. "Human Ring Chromosomes – New Insights for their Clinical Significance." Balkan Journal of Medical Genetics 16, no. 1 (2013): 13–19. http://dx.doi.org/10.2478/bjmg-2013-0013.

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Abstract Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases

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Pereira Araújo, Naiara, Alice Alves do Espírito Santo, Valéria do Socorro Pereira, Roscoe Stanyon, and Marta Svartman. "Chromosome Painting in Callicebus nigrifrons Provides Insights into the Genome Evolution of Titi Monkeys and the Ancestral Callicebinae Karyotype." Cytogenetic and Genome Research 151, no. 2 (2017): 82–88. http://dx.doi.org/10.1159/000458748.

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We studied the chromosomes of Callicebus nigrifrons with conventional and molecular cytogenetic methods. Our chromosome painting analysis in C. nigrifrons together with previous reports allowed us to hypothesize an ancestral Callicebinae karyotype with 2n = 48. The associations of human chromosomes (HSA) 2/22, 7/15, 10/11, and the inverted HSA2/16 would link Callicebus, Cheracebus, and Plecturocebus and would thus be present in the ancestral Callicebinae karyotype. Four fusions (HSA1b/1c, 3c/8b, 13/20, and 14/15/3/21) and 1 fission (HSA2/22) are synapomorphies of Callicebus. The associations H

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Chen, C., A. J. Gentles, J. Jurka, and S. Karlin. "Genes, pseudogenes, and Alu sequence organization across human chromosomes 21 and 22." Proceedings of the National Academy of Sciences 99, no. 5 (2002): 2930–35. http://dx.doi.org/10.1073/pnas.052692099.

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Katsaloulis, P., T. Theoharis, and A. Provata. "Statistical distributions of oligonucleotide combinations: applications in human chromosomes 21 and 22." Physica A: Statistical Mechanics and its Applications 316, no. 1-4 (2002): 380–96. http://dx.doi.org/10.1016/s0378-4371(02)01196-2.

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Guarracino, Andrea, Silvia Buonaiuto, Leonardo Gomes de Lima, et al. "Recombination between heterologous human acrocentric chromosomes." Nature 617, no. 7960 (2023): 335–43. http://dx.doi.org/10.1038/s41586-023-05976-y.

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AbstractThe short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications1,2. Although the resolution of these regions in the first complete assembly of a human genome—the Telomere-to-Telomere Consortium’s CHM13 assembly (T2T-CHM13)—provided a model of their homology3, it remained unclear whether these patterns were ancestral or maintained by ongoing recombination exchange. Here we show that acrocentric chromosomes contain pseudo-homologous regions (PHRs) indicative of recombinat

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Cole, Susan E., Tim Wiltshire, and Roger H. Reeves. "Physical Mapping of the Evolutionary Boundary between Human Chromosomes 21 and 22 on Mouse Chromosome 10." Genomics 50, no. 1 (1998): 109–11. http://dx.doi.org/10.1006/geno.1998.5312.

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18

McCormick, M. K., J. H. Shero, M. C. Cheung, Y. W. Kan, P. A. Hieter, and S. E. Antonarakis. "Construction of human chromosome 21-specific yeast artificial chromosomes." Proceedings of the National Academy of Sciences 86, no. 24 (1989): 9991–95. http://dx.doi.org/10.1073/pnas.86.24.9991.

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19

Iannuzzi, Alessandra, Viviana Genualdo, Angela Perucatti, et al. "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 aberratio

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Sato, Hiroshi, Hiroki Kato, Haruyoshi Yamaza, et al. "Engineering of Systematic Elimination of a Targeted Chromosome in Human Cells." BioMed Research International 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/6037159.

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Embryonic trisomy leads to abortion or congenital genetic disorders in humans. The most common autosomal chromosome abnormalities are trisomy of chromosomes 13, 18, and 21. Although alteration of gene dosage is thought to contribute to disorders caused by extra copies of chromosomes, genes associated with specific disease phenotypes remain unclear. To generate a normal cell from a trisomic cell as a means of etiological analysis or candidate therapy for trisomy syndromes, we developed a system to eliminate a targeted chromosome from human cells. Chromosome 21 was targeted by integration of a D

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21

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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Brunham, L. "What we have learned from the DNA sequences of human chromosomes 21 and 22." Clinical Genetics 58, no. 3 (2001): 166–68. http://dx.doi.org/10.1034/j.1399-0004.2000.580302.3.x.

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23

Dunham, Ian. "The Gene Guessing Game." Yeast 1, no. 3 (2000): 218–24. http://dx.doi.org/10.1155/2000/750875.

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A recent flurry of publications and media attention has revived interest in the question of how many genes exist in the human genome. Here, I review the estimates and use genomic sequence data from human chromosomes 21 and 22 to establish my own prediction.

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Dunham, Ian. "The Gene Guessing Game." Yeast 1, no. 3 (2000): 218–24. http://dx.doi.org/10.1002/1097-0061(20000930)17:3<218::aid-yea37>3.0.co;2-x.

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A recent flurry of publications and media attention has revived interest in the question of how many genes exist in the human genome. Here, I review the estimates and use genomic sequence data from human chromosomes 21 and 22 to establish my own prediction.

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Chiu, Rossa WK, Hao Sun, Ranjit Akolekar, et al. "Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21." Clinical Chemistry 56, no. 3 (2010): 459–63. http://dx.doi.org/10.1373/clinchem.2009.136507.

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Abstract Background: Noninvasive prenatal diagnosis of trisomy 21 (T21) has recently been shown to be achievable by massively parallel sequencing of maternal plasma on a sequencing-by-synthesis platform. The quantification of several other human chromosomes, including chromosomes 18 and 13, has been shown to be less precise, however, with quantitative biases related to the chromosomal GC content. Methods: Maternal plasma DNA from 10 euploid and 5 T21 pregnancies was sequenced with a sequencing-by-ligation approach. We calculated the genomic representations (GRs) of sequenced reads from each ch

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Hall, Andrew G., Sarina Sulong, Christine Harrison, et al. "Assessment of Aneuploidy in Childhood Acute Lymphoblastic Leukaemia Using High Density Oligonucleotide Arrays." Blood 108, no. 11 (2006): 104. http://dx.doi.org/10.1182/blood.v108.11.104.104.

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Abstract Chromosomal copy number (CN) is an important prognostic index in childhood acute lymphoblastic leukaemia (ALL). High hyperdiploidy (51–65 chromosomes) is associated with a good prognosis and near haploidy (23–29) a poor outcome. Conventional cytogenetics produces accurate estimates of CN in the majority of cases but sometimes cytogenetic fails or the morphology of chromosomes in ALL is too poor for accurate identification. We have used single nucleotide polymorphism arrays (SNPA) to determine CN in 86 childhood ALL patients and have compared the results with conventional cytogenetic a

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Volkov, A. N., and O. I. Rytenkova. "Cytogenetic techniques in current biomedical research. PART III: numerical alterations of human karyotype." Fundamental and Clinical Medicine 7, no. 3 (2022): 85–96. http://dx.doi.org/10.23946/2500-0764-2022-7-3-85-96.

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Numerical abnormalities of karyotype are the result of genome mutations. Unlike gene and chromosomal abnormalities, genome mutations do not disrupt the structure of DNA or chromosomes. The cause of numerical changes in the karyotype is a violation of the mechanism of chromosome segregation during meiosis or mitosis. Like other mutations, genome mutations are a natural mechanism for increasing of genetic diversity in offspring. At the same time, humans usually have negative effects of any numerical deviations from the norm, for this reason, cytogenetic examination of aneuploidies is an importan

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Chandley, A. C., R. M. Speed, and A. R. Leitch. "Different distributions of homologous chromosomes in adult human Sertoli cells and in lymphocytes signify nuclear differentiation." Journal of Cell Science 109, no. 4 (1996): 773–76. http://dx.doi.org/10.1242/jcs.109.4.773.

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Using whole chromosome painting probes for human chromosomes 3,7,8,13,17 and 21 and X and the probe pHY2.1 for the Y chromosome coupled with fluorescent in situ hybridization (FISH) analysis, the distribution of chromosomes is reported in nuclei of Sertoli cells of the adult testis and in stimulated blood lymphocytes. The distribution of chromosomes in the two cell types is significantly different. A strong tendency for each pair of homologues to pair is inferred from the observation of only a single detectable signal in the majority of Sertoli cell nuclei. The sex chromosomes, by contrast, gi

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Balasubramanian, Suganthi, Paul Harrison, Hedi Hegyi, et al. "SNPs on human chromosomes 21 and 22 – analysis in terms of protein features and pseudogenes." Pharmacogenomics 3, no. 3 (2002): 393–402. http://dx.doi.org/10.1517/14622416.3.3.393.

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30

Justice, M. J., L. D. Siracusa, D. J. Gilbert, et al. "A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross." Genetics 125, no. 4 (1990): 855–66. http://dx.doi.org/10.1093/genetics/125.4.855.

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Abstract Interspecific mouse backcross analysis was used to generate a molecular genetic linkage map of mouse chromosome 10. The map locations of the Act-2, Ahi-1, Bcr, Braf, Cdc-2a, Col6a-1, Col6a-2, Cos-1, Esr, Fyn, Gli, Ifg, Igf-1, Myb, Pah, pgcha, Ros-1 and S100b loci were determined. These loci extend over 80% of the genetic length of the chromosome, providing molecular access to many regions of chromosome 10 for the first time. The locations of the genes mapped in this study extend the known regions of synteny between mouse chromosome 10 and human chromosomes 6, 10, 12 and 21, and reveal

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Hieber, Ludwig, Reinhard Huber, Verena Bauer, et al. "Chromosomal Rearrangements in Post-Chernobyl Papillary Thyroid Carcinomas: Evaluation by Spectral Karyotyping and Automated Interphase FISH." Journal of Biomedicine and Biotechnology 2011 (2011): 1–7. http://dx.doi.org/10.1155/2011/693691.

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Structural genomic rearrangements are frequent findings in human cancers. Therefore, papillary thyroid carcinomas (PTCs) were investigated for chromosomal aberrations and rearrangements of the RET proto-oncogene. For this purpose, primary cultures from 23 PTC have been established and metaphase preparations were analysed by spectral karyotyping (SKY). In addition, interphase cell preparations of the same cases were investigated by fluorescencein situhybridisation (FISH) for the presence of RET/PTC rearrangements using RET-specific DNA probes. SKY analysis of PTC revealed structural aberrations

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Babu, Arvind, and Ram S. Verma. "Characterization of human chromosomal constitutive heterochromatin." Canadian Journal of Genetics and Cytology 28, no. 5 (1986): 631–44. http://dx.doi.org/10.1139/g86-093.

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The constitutive heterochromatin of human chromosomes is evaluated by various selective staining techniques, i.e., CBG, G-11, distamycin A plus 4,6-diamidino-2-phenylindole-2-HCl (DA/DAPI), the fluorochrome D287/170, and Giemsa staining following the treatments with restriction endonucleases AluI and HaeIII. It is suggested that the constitutive heterochromatin could be arbitrarily divided into at least seven types depending on the staining profiles expressed by different regions of C-bands. The pericentromeric C-bands of chromosomes 1, 5, 7, 9, 13–18, and 20–22 consist of more than one type o

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Lugo, T. G., B. Handelin, A. M. Killary, D. E. Housman, and R. E. Fournier. "Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes." Molecular and Cellular Biology 7, no. 8 (1987): 2814–20. http://dx.doi.org/10.1128/mcb.7.8.2814-2820.1987.

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We sought an efficient means to introduce specific human chromosomes into stable interspecific hybrid cells for applications in gene mapping and studies of gene regulation. A defective amphotropic retrovirus was used to insert the gene conferring G418 resistance (neo), a dominant selectable marker, into the chromosomes of diploid human fibroblasts, and the marked chromosomes were transferred to mouse recipient cells by microcell fusion. We recovered five microcell hybrid clones containing one or two intact human chromosomes which were identified by karyotype and marker analysis. Integration of

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Lugo, T. G., B. Handelin, A. M. Killary, D. E. Housman, and R. E. Fournier. "Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes." Molecular and Cellular Biology 7, no. 8 (1987): 2814–20. http://dx.doi.org/10.1128/mcb.7.8.2814.

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We sought an efficient means to introduce specific human chromosomes into stable interspecific hybrid cells for applications in gene mapping and studies of gene regulation. A defective amphotropic retrovirus was used to insert the gene conferring G418 resistance (neo), a dominant selectable marker, into the chromosomes of diploid human fibroblasts, and the marked chromosomes were transferred to mouse recipient cells by microcell fusion. We recovered five microcell hybrid clones containing one or two intact human chromosomes which were identified by karyotype and marker analysis. Integration of

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Giorgi, Dominique, Cynthia Friedman, Barbara J. Trask, and Sylvie Rouquier. "Characterization of Nonfunctional V1R-like Pheromone Receptor Sequences in Human." Genome Research 10, no. 12 (2000): 1979–85. http://dx.doi.org/10.1101/gr.146700.

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The vomeronasal organ (VNO) or Jacobson's organ is responsible in terrestrial vertebrates for the sensory perception of pheromones, chemicals that elicit stereotyped behaviors among individuals of the same species. Pheromone-induced behaviors and a functional VNO have been described in a number of mammals, but the existence of this sensory system in human is still debated. Recently, two nonhomologous gene families, V1R and V2R, encoding pheromone receptors have been identified in rat. These receptors belong to the seven-transmembrane domain G-protein-coupled receptor superfamily. We sought to

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Bihunyak, T. V., Yu I. Bondarenko, O. O. Кulyanda, S. M. Charnosh, A. S. Sverstiuk, and K. O. Bihuniak. "CHROMOSOMAL DISEASES IN THE HUMAN PATHOLOGY." International Journal of Medicine and Medical Research 6, no. 1 (2020): 50–60. http://dx.doi.org/10.11603/ijmmr.2413-6077.2020.1.11501.

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Background. Chromosomal diseases are the cause of 45-50 % of multiple birth defects. Basic research on mutations is performed using genomic technologies to identify a correlation between genotype and phenotype in aneuploidies and to understand its pathogenesis. Objective. The aim of the research is to study the etiology, pathogenesis of symptoms and diagnostics for patients with Down, Klinefelter, Turner syndromes and double aneuploidies by 21 and sex chromosomes. Methods. A literature review by the keywords “Down syndrome”, “Klinefelter syndrome”, “Turner syndrome”, “double aneupl

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Nakayama, Tomohiro, Satoshi Asai, Yasuo Takahashi, Oto Maekawa, and Yasuji Kasama. "Overlapping of Genes in the Human Genome." International Journal of Biomedical Science 3, no. 1 (2007): 14–19. http://dx.doi.org/10.59566/ijbs.2007.3014.

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Overlapping genes are relatively common in DNA and rNA viruses. there are several examples in bac-terial and eukaryotic genomes, but, in general, overlapping genes are quite rare in organisms other than viruses. there have been a few reports of overlapping genes in mammalian genomes. the present study identified all of the overlapping loci and overlapping exons in every chromosome of the human genome using a public database. the total number of overlapping loci on the same and opposite strands was 949 and 743, respectively. similarly, in every chromosome, the instances in which two loci were l

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Mars, WM, P. van Tuinen, HA Drabkin, JW White, and GF Saunders. "A myeloid-related sequence that localizes to human chromosome 8q21.1-22." Blood 71, no. 6 (1988): 1713–19. http://dx.doi.org/10.1182/blood.v71.6.1713.1713.

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Abstract A myeloid-related sequence (mrs) has previously been identified that is highly expressed in selected subpopulations of myeloid leukocytes. Nucleotide sequence analysis indicates that mrs encodes what is apparently a unique 93-amino acid protein that includes an 18-amino acid leader sequence. Hybridization of an mrs cDNA probe to a Southern blot made from somatic cell hybrid DNAs shows 100% concordance with human chromosome 8, thus indicating that mrs localizes to this chromosome. In situ hybridization to metaphase chromosomes further sublocalizes mrs to bands 8q21.1–23 as 58% of the g

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Mars, WM, P. van Tuinen, HA Drabkin, JW White, and GF Saunders. "A myeloid-related sequence that localizes to human chromosome 8q21.1-22." Blood 71, no. 6 (1988): 1713–19. http://dx.doi.org/10.1182/blood.v71.6.1713.bloodjournal7161713.

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A myeloid-related sequence (mrs) has previously been identified that is highly expressed in selected subpopulations of myeloid leukocytes. Nucleotide sequence analysis indicates that mrs encodes what is apparently a unique 93-amino acid protein that includes an 18-amino acid leader sequence. Hybridization of an mrs cDNA probe to a Southern blot made from somatic cell hybrid DNAs shows 100% concordance with human chromosome 8, thus indicating that mrs localizes to this chromosome. In situ hybridization to metaphase chromosomes further sublocalizes mrs to bands 8q21.1–23 as 58% of the grains dis

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Fraser, James A., Johnny C. Huang, Read Pukkila-Worley, J. Andrew Alspaugh, Thomas G. Mitchell, and Joseph Heitman. "Chromosomal Translocation and Segmental Duplication in Cryptococcus neoformans." Eukaryotic Cell 4, no. 2 (2005): 401–6. http://dx.doi.org/10.1128/ec.4.2.401-406.2005.

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ABSTRACT Large chromosomal events such as translocations and segmental duplications enable rapid adaptation to new environments. Here we marshal genomic, genetic, meiotic mapping, and physical evidence to demonstrate that a chromosomal translocation and segmental duplication occurred during construction of a congenic strain pair in the fungal human pathogen Cryptococcus neoformans. Two chromosomes underwent telomere-telomere fusion, generating a dicentric chromosome that broke to produce a chromosomal translocation, forming two novel chromosomes sharing a large segmental duplication. The dupli

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Harrison, P. M. "Molecular Fossils in the Human Genome: Identification and Analysis of the Pseudogenes in Chromosomes 21 and 22." Genome Research 12, no. 2 (2002): 272–80. http://dx.doi.org/10.1101/gr.207102.

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Kampa, D. "Novel RNAs Identified From an In-Depth Analysis of the Transcriptome of Human Chromosomes 21 and 22." Genome Research 14, no. 3 (2004): 331–42. http://dx.doi.org/10.1101/gr.2094104.

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Hajek, R. A., D. W. King, M. A. HernÁNdez-Valero, et al. "Detection of chromosomal aberrations by fluorescencein situhybridization in cervicovaginal biopsies from women exposed to diethylstilbestrolin utero." International Journal of Gynecologic Cancer 16, no. 1 (2006): 318–24. http://dx.doi.org/10.1136/ijgc-00009577-200601000-00051.

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Epidemiologic studies have associated estrogens with human neoplasms such as those in the endometrium, cervix, vagina, breast, and liver. Perinatal exposure to natural (17β-estradiol [17β-E2]) and synthetic (diethylstilbestrol [DES]) estrogens induces neoplastic changes in humans and rodents. Previous studies demonstrated that neonatal 17β-E2treatment of mice results in increased nuclear DNA content of cervicovaginal epithelium that precedes histologically evident neoplasia. In order to determine whether this effect was associated with chromosomal changes in humans, the frequencies of trisomy

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Weier, Heinz-Ulli G., Jingly F. Weier, Maria Oter Renom, et al. "Fluorescence In Situ Hybridization and Spectral Imaging Analysis of Human Oocytes and First Polar Bodies." Journal of Histochemistry & Cytochemistry 53, no. 3 (2005): 269–72. http://dx.doi.org/10.1369/jhc.4b6391.2005.

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We investigated the frequencies of abnormalities involving either chromosome 1, 16, 18, or 21 in failed-fertilized human oocytes. Although abnormalities involving chromosome 16 showed an age-dependent increase, results for the other chromosomes did not show statistically significant differences among the three age groups, <35 years, 35–39 years, and >39 years. The scoring of four chromosomes is likely to underestimate the true rate of aneuploid cells. Therefore, for a pilot study investigating a more-comprehensive analysis of oocytes and their corresponding first polar bodies, we develop

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Dang, Tien-Truong, Thi Mui Phung, Hoang Le, et al. "Preimplantation Genetic Testing of Aneuploidy by Next Generation Sequencing: Association of Maternal Age and Chromosomal Abnormalities of Blastocyst." Open Access Macedonian Journal of Medical Sciences 7, no. 24 (2019): 4427–31. http://dx.doi.org/10.3889/oamjms.2019.875.

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BACKGROUND: Aneuploidy is a major cause of miscarriages and implantation failure. Preimplantation genetic testing for aneuploidy (PGT-A) by Next Generation Sequencing (NGS) is able to detect of the numeral and structural chromosomal abnormalities of embryos in vitro fertilization (IVF). AIM: This study was aimed to assess the relationship between maternal age and chromosomal abnormalities NGS technology. METHODS: 603 human trophectoderm (TE) biopsied samples were tested by Veriseq kit of Illumina. The relation of marternal age and chromosomal abnormality of blastocyst embryo was ev

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Albano, Francesco, Luisa Anelli, Antonella Zagaria, et al. "Genomic Segmental Duplications at the Basis of t(9;22) Rearrangement in Chronic Myeloid Leukemia." Blood 114, no. 22 (2009): 3261. http://dx.doi.org/10.1182/blood.v114.22.3261.3261.

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Abstract Abstract 3261 Poster Board III-1 A crucial role of segmental duplications (SDs) of the human genome has been demonstrated in chromosomal rearrangements associated with several genomic disorders. Limited knowledge is yet available on the molecular processes resulting in chromosomal rearrangements in tumors. The t(9;22)(q34;q11) causing the 5'BCR/3'ABL gene formation has been detected in more than 90% of chronic myeloid leukemia (CML) cases. Some years ago, a 76-kb duplicon was reported, closely located to both ABL and BCR genes which are involved in the t(9;22)(q34;q11) translocation a

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Zhao, Chenxi, Liyuan Yang, Sheng Xie, Zhixin Zhang, Hui Pan, and Gaolang Gong. "Hemispheric Module-Specific Influence of the X Chromosome on White Matter Connectivity: Evidence from Girls with Turner Syndrome." Cerebral Cortex 29, no. 11 (2019): 4580–94. http://dx.doi.org/10.1093/cercor/bhy335.

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AbstractTurner syndrome (TS) is caused by the congenital absence of all or part of one of the X chromosomes in females, offering a valuable human “knockout model” to study the functioning patterns of the X chromosome in the human brain. Little is known about whether and how the loss of the X chromosome influences the brain structural wiring patterns in human. We acquired a multimodal MRI dataset and cognitive assessments from 22 girls with TS and 21 age-matched control girls to address these questions. Hemispheric white matter (WM) networks and modules were derived using refined diffusion MRI

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Forejt, Jiri, Tomáš Vacík, and Sona Gregorová. "Segmental Trisomy of Mouse Chromosome 17: Introducing an Alternative Model of Down’s Syndrome." Comparative and Functional Genomics 4, no. 6 (2003): 647–52. http://dx.doi.org/10.1002/cfg.334.

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All of the mouse models of human trisomy 21 syndrome that have been studied so far are based on segmental trisomies, encompassing, to a varying extent, distal chromosome 16. Their comparison with one or more unrelated and non-overlapping segmental trisomies may help to distinguish the effects of specific triplicated genes from the phenotypes caused by less specific developmental instability mechanisms. In this paper, the Ts43H segmental trisomy of mouse chromosome 17 is presented as such an alternative model. The trisomy stretches over 32.5 Mb of proximal chromosome 17 and includes 486 genes.

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Tulay, Pinar, Meral Gultomruk, Necati Findikli, Erbil Yagmur, and Mustafa Bahceci. "Is the interchromosomal effect present in embryos derived from Robertsonian and reciprocal translocation carriers particularly focusing on chromosome 10 rearrangements?" Zygote 23, no. 6 (2014): 908–15. http://dx.doi.org/10.1017/s0967199414000628.

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SummaryThe aim of this study was to analyse the possible occurrence of the interchromosomal effect (ICE) in human preimplantation embryos obtained from Robertsonian and reciprocal translocation carriers focusing on ones with chromosome 10 rearrangements who were undergoing preimplantation genetic diagnosis (PGD) and to investigate whether offering aneuploidy screening would be beneficial to these patients. Cleavage stage embryos from translocation carriers undergoing PGD were biopsied. Multicolour fluorescence in situ hybridisation for the chromosomes involved in the translocation in addition

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Shinohara, Hirohiko, Masaya Fukushi, Masaya Higuchi, et al. "Chromosome Binding Site of Latency-Associated Nuclear Antigen of Kaposi's Sarcoma-Associated Herpesvirus Is Essential for Persistent Episome Maintenance and Is Functionally Replaced by Histone H1." Journal of Virology 76, no. 24 (2002): 12917–24. http://dx.doi.org/10.1128/jvi.76.24.12917-12924.2002.

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ABSTRACT Latency-associated nuclear antigen 1 (LANA1) of Kaposi's sarcoma-associated herpesvirus (KSHV; human herpesvirus 8) persistently maintains a plasmid containing the KSHV latent origin of replication (oriP) as a closed circular episome in dividing cells. In this study, we investigated the involvement of chromosome binding activity of LANA1 in persistent episome maintenance. Deletion of the N-terminal 22 amino acids of LANA1 (ΔN-LANA) inhibited the interaction with mitotic chromosomes in a human cell line, and the mutant concomitantly lost activity for the long-term episome maintenance o

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