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1

Tamang, Sonam. "Principles and Applications of Fetal Chromosome Number and Structure Analysis." Sriwijaya Journal of Obstetrics and Gynecology 1, no. 2 (December 20, 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) and monosomy (the absence of a chromosome), which can have an impact on the health of the fetus. In addition to determining the number of chromosomes, this examination can also detect structural chromosome abnormalities like translocations, deletions, and duplications, which might potentially affect the health of the fetus. This investigation's findings provide significant insights to both patients and clinicians, enabling them to make more informed choices about continuing the pregnancy and receiving appropriate medical attention if genetic abnormalities are detected. This study can also be utilized for the identification of particular genetic illnesses associated with specific gene mutations, thereby aiding in treatment strategizing and postnatal readiness.
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2

Dang, Tien-Truong, Thi Mui Phung, Hoang Le, Thi-Bich-Van Nguyen, Thi Sim Nguyen, Thi Lien Huong Nguyen, Vu Thi Nga, Dinh Toi Chu, Van Luong Hoang, and Duy Bac Nguyen. "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 (December 20, 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 evaluated. RESULTS: Among the 603 TE samples, 247 samples (42.73%) presented as chromosomal abnormalities. The abnormalities occurred to almost chromosomes, and the most popular aneuploidy observed is 22. Aneuploidy rate from 0.87% in chromosome 11 to 6.06% in chromosome 22. The rate of abnormal chromosome increased dramatically in group of mother's ages over 37 (54.17%) comparing to group of mother's ages less than 37 (38.05%) (p < 0.000). The Abnormal chromosome and maternal age has a positive correlation with r = 0.4783 (p<0.0001). CONCLUSION: These results showed high rate abnormal chromosome and correlated with advanced maternal age of blastocyst embryos.
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3

Gontar, Y. V., O. Y. Verlinsky, I. E. Ilyin, and O. M. Fedota. "Investigation of human aneuploidy and polyploidy in subcidiary reproductive technology programs." Visnik ukrains'kogo tovaristva genetikiv i selekcioneriv 14, no. 1 (June 20, 2016): 8–15. http://dx.doi.org/10.7124/visnyk.utgis.14.1.539.

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Aim. To evaluate the frequency of aneuploidy and polyploidy among sperm, preimplantation embryos, the embryos stopped in development, developing fetuses and adults studied in the framework of subsidiary reproductive technologies. Methods. To determine the chromosomes of cells from samples of different biological material cytogenetic and molecular cytogenetic methods were used. Results. The highest frequency of aneuploidy is observed among the preimplantation embryos (69.1 %) and the embryos stopped in development (60.9 %). Aneuploid/euploid chromosome set ratio is similar for both genders in all research objects except embryos stopped in development: for females it was 1:1, for males – 1.8:1. Among the spermatozoa most frequent is aneuploidy along the 18th (27 %) and sex (30.3 %) chromosomes, among preimplantation embryos – along the 13th chromosome (31.1 %), among abortuses along the 18th chromosome (40 6 %), fetuses – along the 21st chromosome (72.2 %). Sex ratio among polyploid preimplantation embryos – 1:1, among the embryos stopped in development – 2.5:1 in favor of males. Conclusions. The high frequency of aneuploidy among the early embryos is a leading cause of implantation failure, spontaneous abortion at different timing or the presence of multiple fetal malformations. Preimplantation genetic screening is essential for reducing the incidence of chromosomal abnormalities and increase in the effectiveness of subsidiary reproductive technologies.Keywords: chromosomal abnormalities, aneuploidy, polyploidy, karyotype, preimplantation genetic screening.
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4

Munne, S. "Chromosome abnormalities in human embryos." Human Reproduction Update 4, no. 6 (November 1, 1998): 842–55. http://dx.doi.org/10.1093/humupd/4.6.842.

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5

McFadden, Deborah E., and J. M. Friedman. "Chromosome abnormalities in human beings." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 396, no. 1-2 (December 1997): 129–40. http://dx.doi.org/10.1016/s0027-5107(97)00179-6.

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6

Donate, Anna, Anna M. Estop, Jesús Giraldo, and Cristina Templado. "Paternal Age and Numerical Chromosome Abnormalities in Human Spermatozoa." Cytogenetic and Genome Research 148, no. 4 (2016): 241–48. http://dx.doi.org/10.1159/000446724.

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This study explores the relationship between numerical chromosome abnormalities in sperm and age in healthy men. We performed FISH in the spermatozoa of 10 donors from the general population: 5 men younger than 40 years of age and 5 fertile men older than 60 years of age. For each chromosome, 1,000 sperm nuclei were analyzed, with a total of 15,000 sperm nuclei for each donor. We used a single sperm sample per donor, thus minimizing intra-donor variability and optimizing consistent analysis. FISH with a TelVysion assay, which provides data on aneuploidy of 19 chromosomes, was used in order to gain a more genome-wide perspective of the level of aneuploidy. Aneuploidy and diploidy rates observed in the younger and older groups were compared. There were no significant differences in the incidence of autosomal disomy, sex chromosome disomy, total chromosome disomy, diploidy, nor total numerical abnormalities between younger and older men. This work confirms that aneuploidy of the sex chromosomes is more common than that of autosomes and that this does not change with age. Our results suggest that some probe combinations have a tendency to indicate higher levels of diploidy, thus potentially affecting FISH results and highlighting the limitations of FISH.
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7

Hall, Judith G. "How imprinting is relevant to human disease." Development 108, Supplement (April 1, 1990): 141–48. http://dx.doi.org/10.1242/dev.108.supplement.141.

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Genomic imprinting appears to be a ubiquitous process in mammals involving many chromosome segments whose affects are dependent on their parental origin. One of the challenges for clinical geneticists is to determine which disorders are manifesting imprinting effects and which families are affected. Re-evaluation of cases of chromosomal abnormalities and family histories of disease manifestations should give important clues. Examination of the regions of human chromosomes homologous to mouse imprinted chromosomal regions may yield useful information. Cases of discordance in monozygous twins may also provide important insights into imprinted modification of diseases.
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8

Morris, SW, MB Valentine, DN Shapiro, JE Sublett, LL Deaven, JT Foust, WM Roberts, DP Cerretti, and AT Look. "Reassignment of the human CSF1 gene to chromosome 1p13-p21." Blood 78, no. 8 (October 15, 1991): 2013–20. http://dx.doi.org/10.1182/blood.v78.8.2013.2013.

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Abstract Human macrophage colony-stimulating factor (CSF-1 or M-CSF) is encoded by a single gene that was previously assigned to the long arm of chromosome 5, band q33.1, in a region adjacent to the gene encoding its receptor (Pettenati MJ, et al, Proc Natl Acad Sci USA 84:2970, 1987). Using fluorescence in situ hybridization with genomic probes to examine normal metaphase chromosomes, we reassigned the human CSF1 gene to the short arm of chromosome 1, bands p13-p21. We confirmed this result by hybridizing a CSF1 cDNA probe to filters containing flow-sorted chromosomes and by identifying CSF1 sequences in DNAs extracted from human x rodent somatic cell hybrids that contained human chromosome 1 but not human chromosome 5. Our findings are consistent with studies that have shown tight linkage between the murine CSF1 and amylase genes, as part of a conserved linkage group between mouse chromosome 3 and the short arm of human chromosome 1, which also includes the genes encoding the beta subunits of thyrotropin and nerve growth factor. Assignment of the CSF1 gene to chromosome 1 at bands p13-p21 raises the possibility that it may be altered by certain nonrandom chromosomal abnormalities arising in human hematopoietic malignancies and solid tumors.
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9

Morris, SW, MB Valentine, DN Shapiro, JE Sublett, LL Deaven, JT Foust, WM Roberts, DP Cerretti, and AT Look. "Reassignment of the human CSF1 gene to chromosome 1p13-p21." Blood 78, no. 8 (October 15, 1991): 2013–20. http://dx.doi.org/10.1182/blood.v78.8.2013.bloodjournal7882013.

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Human macrophage colony-stimulating factor (CSF-1 or M-CSF) is encoded by a single gene that was previously assigned to the long arm of chromosome 5, band q33.1, in a region adjacent to the gene encoding its receptor (Pettenati MJ, et al, Proc Natl Acad Sci USA 84:2970, 1987). Using fluorescence in situ hybridization with genomic probes to examine normal metaphase chromosomes, we reassigned the human CSF1 gene to the short arm of chromosome 1, bands p13-p21. We confirmed this result by hybridizing a CSF1 cDNA probe to filters containing flow-sorted chromosomes and by identifying CSF1 sequences in DNAs extracted from human x rodent somatic cell hybrids that contained human chromosome 1 but not human chromosome 5. Our findings are consistent with studies that have shown tight linkage between the murine CSF1 and amylase genes, as part of a conserved linkage group between mouse chromosome 3 and the short arm of human chromosome 1, which also includes the genes encoding the beta subunits of thyrotropin and nerve growth factor. Assignment of the CSF1 gene to chromosome 1 at bands p13-p21 raises the possibility that it may be altered by certain nonrandom chromosomal abnormalities arising in human hematopoietic malignancies and solid tumors.
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10

Weier, Heinz-Ulli G., Jingly F. Weier, Maria Oter Renom, Xuezhong Zheng, Pere Colls, Aida Nureddin, Chau D. Pham, Lisa W. Chu, Catherine Racowsky, and Santiago Munné. "Fluorescence In Situ Hybridization and Spectral Imaging Analysis of Human Oocytes and First Polar Bodies." Journal of Histochemistry & Cytochemistry 53, no. 3 (March 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 developed a novel eight-probe chromosome enumeration scheme using fluorescence in situ hybridization and spectral imaging analysis.
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11

Pazarbaşi, A., M. Kasap, O. Demirhan, M. Vardar, D. Suleymanova-Karahan, and F. Doran. "Chromosomal Abnormalities in Endometrial and Ovarian Carcinomas." Balkan Journal of Medical Genetics 10, no. 2 (January 1, 2007): 61–70. http://dx.doi.org/10.2478/v10034-008-0008-y.

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Chromosomal Abnormalities in Endometrial and Ovarian CarcinomasDevelopment and progression of human malignancies involve multiple genetic changes including chromosomal instabilities such as translocations, deletions, and inversions. Chromosomal abnormalities were observed in 23 cases with ovarian and endometrial cancer by cytogenetic studies using a GTG (G bands by trypsin using Giemsa) banding technique. Specific chromosome bands were frequently involved, and were most frequent on chromosomes 1, 2, 3, 5, 12 and 17. Clonal alterations were observed at the cancer breakpoints, such as 1q21, 1q32, 3p21, 7q22, 11q23 in ovarian and 1p36, 1q32, 2p12, 3p21, 7q22, 9q34, 11p15, 11q23, 12q13, 14q11, 14q32, 16p13, 21q22 in endometrial cases. These findings provide evidence that multiple genetic lesions are associated with the pathogenesis of endometrial and ovarian cancer.
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12

Liu, Yanli, Junhan Shen, Rujing Yang, Yuchao Zhang, Liting Jia, and Yichun Guan. "The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles." International Journal of Endocrinology 2022 (March 19, 2022): 1–11. http://dx.doi.org/10.1155/2022/9707081.

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Research Question. What is the incidence of de novo chromosome abnormalities (>4 Mb), and are they related to embryo parameters in preimplantation genetic testing for chromosome structural rearrangement (PGT-SR) cycles and preimplantation genetic testing for aneuploidy (PGT-A) cycles? Design. In total, 456 PGT cycles, including 283 PGT-SR cycles and 173 PGT-A cycles, were assessed through comprehensive chromosome screening (CCS) from January 2017 to June 2020 at the Department of Reproductive Medicine of the Third Affiliated Hospital of Zhengzhou University. Trophectoderm (TE) biopsies were sequenced using next-generation sequencing (NGS). The incidence of de novo chromosome abnormalities was calculated, and the relationships between de novo chromosome abnormality rates and maternal age, number of oocytes retrieved, and parameters of cleavage-stage embryos and blastocyst-stage embryos were investigated. Results. The incidence of de novo chromosome abnormalities was 28.0% (318/1,135) in the PGT-SR cycles and 36.3% (214/590) in the PGT-A cycles, which increased with maternal age in both PGT-SR cycles ( P = 0.018) and PGT-A cycles ( P < 0.001). The incidence of de novo chromosome abnormalities was related to TE grade ( P < 0.001), internal cell mass grade ( P = 0.002), and development speed (day 5 vs. day 7: P < 0.001) of blastocyst-stage embryos. The incidence of de novo chromosomal abnormalities was irrelevant to the number of oocytes retrieved and the parameters of the embryo at the cleavage stage. Conclusion. Blastocysts with higher morphology scores and faster progression had a lower incidence of de novo chromosome abnormalities, especially complex chromosome abnormalities. De novo chromosome abnormalities may negatively affect the morphological grading of blastocysts. Our findings will provide valuable information to the fertility doctor for embryo selection in non-PGT cycles.
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13

Martin, Renée H. "Meiotic chromosome abnormalities in human spermatogenesis." Reproductive Toxicology 22, no. 2 (August 2006): 142–47. http://dx.doi.org/10.1016/j.reprotox.2006.03.013.

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14

Fragouli, E., D. Wells, and J. D. A. Delhanty. "Chromosome Abnormalities in the Human Oocyte." Cytogenetic and Genome Research 133, no. 2-4 (2011): 107–18. http://dx.doi.org/10.1159/000323801.

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15

Hassold, Terry J. "Chromosome abnormalities in human reproductive wastage." Trends in Genetics 2 (January 1986): 105–10. http://dx.doi.org/10.1016/0168-9525(86)90194-0.

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16

Osterhage, Jennifer L., and Katherine L. Friedman. "Chromosome End Maintenance by Telomerase." Journal of Biological Chemistry 284, no. 24 (March 12, 2009): 16061–65. http://dx.doi.org/10.1074/jbc.r900011200.

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Telomeres, protein-DNA complexes at the ends of eukaryotic linear chromosomes, are essential for genome stability. The accumulation of chromosomal abnormalities in the absence of proper telomere function is implicated in human aging and cancer. Repetitive telomeric sequences are maintained by telomerase, a ribonucleoprotein complex containing a reverse transcriptase subunit, a template RNA, and accessory components. Telomere elongation is regulated at multiple levels, including assembly of the telomerase holoenzyme, recruitment of telomerase to the chromosome terminus, and telomere accessibility. This minireview provides an overview of telomerase structure, function, and regulation and the role of telomerase in human disease.
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17

Kagaya, Katsushi, Naoto Noma-Takayasu, Io Yamamoto, Sanki Tashiro, Fuyuki Ishikawa, and Makoto T. Hayashi. "Chromosome instability induced by a single defined sister chromatid fusion." Life Science Alliance 3, no. 12 (October 26, 2020): e202000911. http://dx.doi.org/10.26508/lsa.202000911.

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Chromosome fusion is a frequent intermediate in oncogenic chromosome rearrangements and has been proposed to cause multiple tumor-driving abnormalities. In conventional experimental systems, however, these abnormalities were often induced by randomly induced chromosome fusions involving multiple different chromosomes. It was therefore not well understood whether a single defined type of chromosome fusion, which is reminiscent of a sporadic fusion in tumor cells, has the potential to cause chromosome instabilities. Here, we developed a human cell-based sister chromatid fusion visualization system (FuVis), in which a single defined sister chromatid fusion is induced by CRISPR/Cas9 concomitantly with mCitrine expression. The fused chromosome subsequently developed extra-acentric chromosomes, including chromosome scattering, indicative of chromothripsis. Live-cell imaging and statistical modeling indicated that sister chromatid fusion generated micronuclei (MN) in the first few cell cycles and that cells with MN tend to display cell cycle abnormalities. The powerful FuVis system thus demonstrates that even a single sporadic sister chromatid fusion can induce chromosome instability and destabilize the cell cycle through MN formation.
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18

Sawarkar, Sarthak, Darren K. Griffin, Lia Ribustello, and Santiago Munné. "Large Intra-Age Group Variation in Chromosome Abnormalities in Human Blastocysts." DNA 1, no. 2 (December 6, 2021): 91–104. http://dx.doi.org/10.3390/dna1020010.

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Research Question: Is maternal age only a gross predictor of chromosome abnormalities in human embryos? Design: Here, we evaluated the less-studied variation in chromosome abnormality rates in embryos of patients within the same age group. Patients undergoing IVF and PGD for chromosomal abnormalities in ~127 different IVF clinics were included. PGT-A analysis was performed by a single reference laboratory using array CGH or NGS. To get an estimate of the range of abnormalities observed, the aCGH and NGS data were studied both independently and together. Results: The overall results showed the typical increase in aneuploidy rates with advancing maternal age (AMA) but extensive variability within each age group. Conclusions: Increasing aneuploidy with maternal age has been demonstrated in live births, unborn fetuses, IVF embryos and oocytes. In contrast, post-meiotic and other abnormalities that might lead to mosaicism, polyploidy and haploidy, are commonplace (around 30%), regardless of maternal age. Here we conclude that age is only a gross predictor of chromosome abnormalities in IVF embryos. In contrast to the existing standard of offering PGT-A to AMA patients, the high rate and extreme variation of chromosomal abnormalities in human embryos may warrant PGT-A for further IVF cycles even in younger age groups, especially if a history of increased levels of aneuploidy is evident. Furthermore, better indicators are needed to determine which patients are at a higher risk of producing increased levels of aneuploid embryos.
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19

U., Shivani, Reshma A. Shetty, Suchetha Kumari N., and D. Prashanth Shetty. "Overview of chromosomal translocations associated with chronic myeloid leukemia." Biomedicine 42, no. 6 (December 31, 2022): 1150–55. http://dx.doi.org/10.51248/.v42i6.1858.

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Chronic Myelogenous Leukemia (CML) is a slow progressing condition caused by balanced translocations of chromosomes 9 and 22, also defined as the Philadelphia (Ph)chromosome, containing the BCR-ABL1 oncogene. CML is classified into three stages; the Chronic, the Accelerated and the Blast crisis phase. These phases are associated with chromosomal translocations and secondary changes. Over the years, innovative scientific development in cancer cytogenetics has considerably improved the detection of chromosomal abnormalities. Fluorescence In situ Hybridization (FISH) method allows further identification of chromosomal alterations that karyotyping cannot resolve. Karyotyping is a gold standard technique that provides the human genome overview. This review mainly focuses on further chromosomal abnormalities, biology of CML, pathways, and therapeutic regimens. The study highlights CML subdivisions and the clinical importance of additional chromosomal abnormalities.
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20

Rubio, Carmen, Lorena Rodrigo, and Carlos Simón. "PREIMPLANTATION GENETIC TESTING: Chromosome abnormalities in human embryos." Reproduction 160, no. 5 (November 2020): A33—A44. http://dx.doi.org/10.1530/rep-20-0022.

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Aneuploidy is a frequent event in human embryos, and its incidence is higher in oocytes and embryos from women of advanced maternal age. Aneuploidy may also be a contributing factor in infertile populations, such as couples with recurrent miscarriages, repetitive implantation failure, or male infertility. For these reasons, preimplantation genetic testing for aneuploidy (PGT-A) has been proposed to prevent miscarriages and increase live birth rates in infertile couples undergoing in vitro fertilisation. Next-generation sequencing is currently being applied for the detection of aneuploidies in human embryos, including whole chromosome aneuploidies, segmental aneuploidies, uniform, and mosaic aneuploidies. More recently, this technology has been incorporated for the analysis of the cell-free DNA secreted by the embryo to the culture media. Chromosome abnormalities mostly originate in female meiosis. Recombination between homologous chromosomes is a critical event that occurs in the foetal ovary. The importance of altered recombination pertains to paternally as well as maternally derived trisomies, but as most aneuploidy arises during oogenesis, the female is at greater risk. For males, sperm concentration is associated with a higher risk of aneuploid sperm and thus aneuploid embryos. Mitosis errors can occur at all stages of early embryo development that result in chromosomally distinct cell populations. The clinical impact of mosaicism depends on the mosaicism type, location, and number of aneuploid cells. Transfer of mosaic embryos has been proposed when no euploid embryos are available in the PGT-A cycle.
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21

Zhegalova, Irina V., Petr A. Vasiluev, Ilya M. Flyamer, Anastasia S. Shtompel, Eugene Glazyrina, Nadezda Shilova, Marina Minzhenkova, et al. "Trisomies Reorganize Human 3D Genome." International Journal of Molecular Sciences 24, no. 22 (November 7, 2023): 16044. http://dx.doi.org/10.3390/ijms242216044.

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Trisomy is the presence of one extra copy of an entire chromosome or its part in a cell nucleus. In humans, autosomal trisomies are associated with severe developmental abnormalities leading to embryonic lethality, miscarriage or pronounced deviations of various organs and systems at birth. Trisomies are characterized by alterations in gene expression level, not exclusively on the trisomic chromosome, but throughout the genome. Here, we applied the high-throughput chromosome conformation capture technique (Hi-C) to study chromatin 3D structure in human chorion cells carrying either additional chromosome 13 (Patau syndrome) or chromosome 16 and in cultured fibroblasts with extra chromosome 18 (Edwards syndrome). The presence of extra chromosomes results in systematic changes of contact frequencies between small and large chromosomes. Analyzing the behavior of individual chromosomes, we found that a limited number of chromosomes change their contact patterns stochastically in trisomic cells and that it could be associated with lamina-associated domains (LAD) and gene content. For trisomy 13 and 18, but not for trisomy 16, the proportion of compacted loci on a chromosome is correlated with LAD content. We also found that regions of the genome that become more compact in trisomic cells are enriched in housekeeping genes, indicating a possible decrease in chromatin accessibility and transcription level of these genes. These results provide a framework for understanding the mechanisms of pan-genome transcription dysregulation in trisomies in the context of chromatin spatial organization.
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22

Journal, Baghdad Science. "Chromosomal aberrations and N-ras activation in human larynx carcinoma cell line Hep-2." Baghdad Science Journal 5, no. 3 (September 7, 2008): 346–52. http://dx.doi.org/10.21123/bsj.5.3.346-352.

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In the present study, cytogenetic and molecular techniques were conducted to detect the chromosomal aneuploidy and the involvement of N and H genes in squamous larynx carcinoma cell line Hep-2.Our results showed that numerical and structural abnormalities were involved in larynx cancer Hep-2.The total number of chromosomes ranging from tripolyploidy in passage187to more than that in passage207.The more frequent chromosomes involved in numerical aberrations were chromosomes1,7,16,17 and 18. Structural chromosomal aberrations were also detected.Deletion of short arm was detected in chromosome 1(del 1p) and the long arm of chromosome 1(del 1q)and 6(del 6q).Gaining on short arms were also recorded in chromosomes 3(3p+) and 12(12p+).At the molecular level,one allele of N-ras proto-oncogene was found deleted in the location 61 in passage 187 and complete deletion of both locations in passage 207.These findings reflex a great genomic instability in the the tumor model used in this study. Also the results confirmed the multistages theory in cancer arising.
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Al-Faisal, Abdul Hussain M., Amal M. Ali, and Nahi Y. Yassen. "Chromosomal aberrations and N-ras activation in human larynx carcinoma cell line Hep-2." Baghdad Science Journal 5, no. 3 (September 7, 2008): 346–52. http://dx.doi.org/10.21123/bsj.2008.5.3.346-352.

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In the present study, cytogenetic and molecular techniques were conducted to detect the chromosomal aneuploidy and the involvement of N and H genes in squamous larynx carcinoma cell line Hep-2.Our results showed that numerical and structural abnormalities were involved in larynx cancer Hep-2.The total number of chromosomes ranging from tripolyploidy in passage187to more than that in passage207.The more frequent chromosomes involved in numerical aberrations were chromosomes1,7,16,17 and 18. Structural chromosomal aberrations were also detected.Deletion of short arm was detected in chromosome 1(del 1p) and the long arm of chromosome 1(del 1q)and 6(del 6q).Gaining on short arms were also recorded in chromosomes 3(3p+) and 12(12p+).At the molecular level,one allele of N-ras proto-oncogene was found deleted in the location 61 in passage 187 and complete deletion of both locations in passage 207.These findings reflex a great genomic instability in the the tumor model used in this study. Also the results confirmed the multistages theory in cancer arising.
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24

Swiggers, Susan J. J., Marianne A. Kuijpers, Maartje J. de Cort, Berna Beverloo, and J. Mark J. M. Zijlmans. "Extensive Chromosome Instability in Acute Myeloid Leukemia Is Associated with Critical Telomere Shortening." Blood 104, no. 11 (November 16, 2004): 3376. http://dx.doi.org/10.1182/blood.v104.11.3376.3376.

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Abstract Telomeres, the ends of linear chromosomes, have a critical role in protection against chromosome end-to-end fusion. Telomeres shorten in every cell division due to the end replication problem. Telomerase is a reverse transcriptase that adds telomeric DNA repeats to the ultimate chromosome end. In vitro models of long-term fibroblast cultures have identified two sequential mortality stages, senescence (M1) and crisis (M2). Senescence can be bypassed by loss of p53 or Rb function, whereas escape from crisis can only be achieved by activating a telomere maintenance mechanism, mostly telomerase reactivation. Cells that bypass senescence (M1) did not reactivate telomerase, resulting in further telomere shortening to a critical telomere length upon reaching crisis (M2). In these models, critical telomere shortening induces extensive chromosome instability, most likely via chromosome end-to-end fusions. Dicentric chromosomes lead to anaphase breakage-fusion-bridges resulting in multiple chromosomal aberrations. To investigate whether similar mechanisms may be involved in the development of genetic instability in human cancer, we studied telomere length and expression of critical telomeric proteins (TRF2 and POT1) in acute myeloid leukemia (AML) patients. AML is a good model for these studies since distinct subgroups of AML are characterized by either exchanges along chromosome arms (translocation or inversion), or by a complex karyotype with multiple chromosome aberrations. Groups were age-matched. Telomere length was studied in metaphase arrested leukemic cells using quantitative fluorescence in situ hybridization (Q-FISH) using a telomere-specific probe. Subsequently, metaphase spreads were hybridized with a leukemia-specific probe to confirm leukemic origin of each metaphase. Telomeres were significantly shorter in AML samples with multiple chromosomal abnormalities in comparison to AML samples with a reciprocal translocation/inversion or no abnormalities (mean±SEM=16±1.7 AFU, n=12 versus 29±4.3 AFU, n=18; p=0.015). Interestingly, telomerase activity level is significantly higher in AML samples with multiple chromosomal abnormalities, compared to AML samples with a reciprocal translocation or inversion (mean±SEM=330±95, n=11 versus 70±21, n=13; p=0.02). Expression levels of telomeric proteins TRF2 and POT1 were similar in these AML groups. Our observations suggest that, consistent with previous in vitro models in fibroblasts, critical telomere shortening may have a role in the development of genetic instability in human AML. Critically short telomeres in association with high levels of telomerase activity suggest that AML cells with multiple chromosomal abnormalities have bypassed crisis (M2). The longer telomeres and low levels of telomerase activity in AML cells with a reciprocal translocation or inversion suggest that they originate from an earlier stage, preceding crisis. Consequently, telomere length modulation may have a role in cancer prevention.
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Wakchaure, Sakshi. "Chromosome Classification Using Deep Learning Technique." International Journal for Research in Applied Science and Engineering Technology 11, no. 5 (May 31, 2023): 4195–202. http://dx.doi.org/10.22214/ijraset.2023.52479.

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Abstract: Automated chromosome classification is a critical task in cytogenetics and has been traditionally performed manually. Recent advancements in image processing and machine learning have opened new avenues for automated chromosome classification. This paper presents a novel method for straightening and classifying chromosomes, utilizing a blend of imageprocessing techniques and a convolutional neural network (CNN) algorithm. The proposed approach involves pre-processing chromosome images, which includes straightening them to eliminate any curvature caused by their natural shape and extracting features with the aid of a CNN. The design of the method allows for the training and testing of images, facilitating the prediction of chromosomal abnormalities with high accuracy. The performance of the method was evaluated using a dataset of chromosome images, demonstrating exceptional accuracy and robustness. The proposed approach was evaluated using publicly available datasets of human chromosomes and achieved an accuracy of 93% without the straightening of chromosomes and 96% after the straightening of chromosomes. This method has the potential to be applied in cytogenetics and medical diagnosis, where precise and efficient chromosome classification is vital, and the ability to straighten chromosomes can enhance the accuracy of the analysis.
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26

Munne, S., C. Magli, A. Adler, G. Wright, K. de Boer, D. Mortimer, M. Tucker, J. Cohen, and L. Gianaroli. "Treatment-related chromosome abnormalities in human embryos." Human Reproduction 12, no. 4 (April 1, 1997): 780–84. http://dx.doi.org/10.1093/humrep/12.4.780.

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27

Gallion, H. H., D. E. Powell, L. W. Smith, J. K. Morrow, A. W. Martin, J. R. van Nagell, and E. S. Donaldson. "Chromosome abnormalities in human epithelial ovarian malignancies." Gynecologic Oncology 38, no. 3 (September 1990): 473–77. http://dx.doi.org/10.1016/0090-8258(90)90094-2.

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28

Gallion, HH, DE Powell, LW Smith, JK Morrow, AW Martin, JR Van Nagell, and ES Donaldson. "Chromosome abnormalities in human epithelial ovarian malignancies." International Journal of Gynecology & Obstetrics 36, no. 1 (September 1991): 79. http://dx.doi.org/10.1016/0020-7292(91)90191-7.

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29

Sandberg, Avery A. "Chromosome abnormalities in human cancer and leukemia." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 247, no. 2 (April 1991): 231–40. http://dx.doi.org/10.1016/0027-5107(91)90019-k.

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30

Volkov, A. N., and L. V. Nacheva. "Сytogenetic techniques in current biomedical research. part i: history and theoretical basis of human cytogenetics." Fundamental and Clinical Medicine 6, no. 4 (December 28, 2021): 142–50. http://dx.doi.org/10.23946/2500-0764-2021-6-4-142-150.

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Cytogenetics is an essential part of human genetics which studies the structure of chromosomes and their collection which is called karyotype. Cytogenetic techniques are employed while interrogating DNA organisation and compaction. Analysis of the chromosomal structure contributes to uncovering the molecular basis of various cellular processes in normal and pathological conditions. Furthermore, spectrum and frequency of chromosome abnormalities serves as an indicator of mutagenic effects. Cytogenetic techniques became indispensable for discovering the genetic causes of human diseases at different stages of ontogenesis. Genetic abnormalities are a common cause of impaired reproductive function, abnormal pregnancy, and neonatal malformations. Genetic screening for chromosomal abnormalities and congenital anomalies is a powerful tool for reducing the genetic load in human populations as well as disease, psychological and social burden on families and societies. This paper begins the cycle of lectures on molecular basis of human cytogenetics, cytogenetic techniques, and the corresponding research and clinical applications. The lecture is primarily aimed at biomedical students and physicians who often have an unmet need to analyse and interpret the results of cytogenetic analyses.
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31

Sato, Hiroshi, Hiroki Kato, Haruyoshi Yamaza, Keiji Masuda, Huong Thi Nguyen Nguyen, Thanh Thi Mai Pham, Xu Han, Yuta Hirofuji, and Kazuaki Nonaka. "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 DNA cassette in HeLa cells that harbored three copies of chromosome 21. The DNA cassette included two inverted loxP sites and a herpes simplex virus thymidine kinase (HSV-tk) gene. This system causes missegregation of chromosome 21 after expression of Cre recombinase and subsequently enables the selection of cells lacking the chromosome by culturing in a medium that includes ganciclovir (GCV). Cells harboring only two copies of chromosome 21 were efficiently induced by transfection of a Cre expression vector, indicating that this approach is useful for eliminating a targeted chromosome.
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32

Röpke, Albrecht, and Frank Tüttelmann. "MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility." European Journal of Endocrinology 177, no. 5 (November 2017): R249—R259. http://dx.doi.org/10.1530/eje-17-0246.

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Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno’s law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno’s law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.
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Xu, Juanjuan, Rui Fang, Li Chen, Daozhen Chen, Jian-Ping Xiao, Weimin Yang, Honghua Wang, et al. "Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization." Proceedings of the National Academy of Sciences 113, no. 42 (September 29, 2016): 11907–12. http://dx.doi.org/10.1073/pnas.1613294113.

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Preimplantation genetic screening (PGS) is widely used to select in vitro-fertilized embryos free of chromosomal abnormalities and to improve the clinical outcome of in vitro fertilization (IVF). A disadvantage of PGS is that it requires biopsy of the preimplantation human embryo, which can limit the clinical applicability of PGS due to the invasiveness and complexity of the process. Here, we present and validate a noninvasive chromosome screening (NICS) method based on sequencing the genomic DNA secreted into the culture medium from the human blastocyst. By using multiple annealing and looping-based amplification cycles (MALBAC) for whole-genome amplification (WGA), we performed next-generation sequencing (NGS) on the spent culture medium used to culture human blastocysts (n = 42) and obtained the ploidy information of all 24 chromosomes. We validated these results by comparing each with their corresponding whole donated embryo and obtained a high correlation for identification of chromosomal abnormalities (sensitivity, 0.882, and specificity, 0.840). With this validated NICS method, we performed chromosome screening on IVF embryos from seven couples with balanced translocation, azoospermia, or recurrent pregnancy loss. Six of them achieved successful clinical pregnancies, and five have already achieved healthy live births thus far. The NICS method avoids the need for embryo biopsy and therefore substantially increases the safety of its use. The method has the potential of much wider chromosome screening applicability in clinical IVF, due to its high accuracy and noninvasiveness.
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34

del Mar Inda, María, Xing Fan, Jorge Muñoz, Christine Perot, Didier Fauvet, Giselle Danglot, Ana Palacio, et al. "Chromosomal abnormalities in human glioblastomas: Gain in chromosome 7p correlating with loss in chromosome 10q." Molecular Carcinogenesis 36, no. 1 (December 26, 2002): 6–14. http://dx.doi.org/10.1002/mc.10085.

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35

Arkesteijn, GJ, AC Martens, and A. Hagenbeek. "Bivariate flow karyotyping in human Philadelphia-positive chronic myelocytic leukemia." Blood 72, no. 1 (July 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 index increase ranged from 2 to 80 times initial values. Chromosomes were isolated and stained with two base pair-specific fluorochromes, ie, chromomycin A3 and Hoechst 33258, and run through a specially designed dual-laser beam flow cytometer. Generally, 20,000 chromosomes or more were measured. The data were computer stored in list mode. Besides the clear detection of the specific Philadelphia chromosome, trisomies and other additional chromosomal aberrations [like an i(17q)] were visualized. Quantitative analysis revealed the percentage of subclones containing a certain chromosomal anomaly. Conventional cytogenetic analysis confirmed these findings. In seven of eight cases, CML could be diagnosed on the basis of the presence of a Philadelphia chromosome in the flow karyogram. In one of these seven, the conventional cytogenetic analysis was unknown at that time. The remaining six all matched the standard cytogenetics. The one failure out of eight could be attributed to the specific stimulating conditions in the culture. Although it is impossible by this technique to determine the position of the breakpoint, the involved chromosomes in the translocation event could be identified. In some cases, low percentages of aberrations could not be detected. This study shows that CML can be diagnosed on the basis of flow karyotypic results. Additional chromosomal aberrations can be detected provided that changes in the amount of DNA per chromosome have occurred. Exact quantification of the composition of subclones in the case of mosaicism appear difficult.
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36

Arkesteijn, GJ, AC Martens, and A. Hagenbeek. "Bivariate flow karyotyping in human Philadelphia-positive chronic myelocytic leukemia." Blood 72, no. 1 (July 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 increase ranged from 2 to 80 times initial values. Chromosomes were isolated and stained with two base pair-specific fluorochromes, ie, chromomycin A3 and Hoechst 33258, and run through a specially designed dual-laser beam flow cytometer. Generally, 20,000 chromosomes or more were measured. The data were computer stored in list mode. Besides the clear detection of the specific Philadelphia chromosome, trisomies and other additional chromosomal aberrations [like an i(17q)] were visualized. Quantitative analysis revealed the percentage of subclones containing a certain chromosomal anomaly. Conventional cytogenetic analysis confirmed these findings. In seven of eight cases, CML could be diagnosed on the basis of the presence of a Philadelphia chromosome in the flow karyogram. In one of these seven, the conventional cytogenetic analysis was unknown at that time. The remaining six all matched the standard cytogenetics. The one failure out of eight could be attributed to the specific stimulating conditions in the culture. Although it is impossible by this technique to determine the position of the breakpoint, the involved chromosomes in the translocation event could be identified. In some cases, low percentages of aberrations could not be detected. This study shows that CML can be diagnosed on the basis of flow karyotypic results. Additional chromosomal aberrations can be detected provided that changes in the amount of DNA per chromosome have occurred. Exact quantification of the composition of subclones in the case of mosaicism appear difficult.
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37

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 (June 1, 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 translocation between chromosome 21 and chromosome 22, which is inherited across three generations without any phenotypic effect, notably only in females. In situ hybridization with alpha-satellite DNAs revealed the presence of both centromeric sequences in the translocated chromosome. The reciprocal translocation resulted in a partial deletion of the short arm of both chromosomes 21, and 22, with the ribosomal RNA genes remaining present in the middle part of the new metacentric chromosome. The rearrangement did not cause alterations to the long arm. The spread of an asymptomatic heterozygous chromosomal polymorphism in a population can lead to mating between heterozygous individuals, potentially resulting in offspring with a homozygous chromosomal configuration for the anomaly they carry. This new karyotype may not produce phenotypic effects in the individual who presents it. The frequency of karyotypes with chromosomal rearrangements in asymptomatic heterozygous form in human populations is likely underestimated, and molecular karyotype by array Comparative Genomic Hybridization (array-CGH) analysis does not allow for the identification of this type of chromosomal anomaly, making classical cytogenetic analysis the preferred method for obtaining clear results on a karyotype carrying a balanced rearrangement.
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38

Oliveira, Fabio Morato, Maria do Carmo Favarin, Rodrigo T. Calado, Ana Paula N. Rodrigues Alves, Cassia Godoi, and Roberto P. Falcao. "Spectral Karyotyping (SKY) Reveals a New Subset of MDS Patients with Clonal Chromosomal Abnormalities Not Detected by G-Banding Analysis." Blood 118, no. 21 (November 18, 2011): 1718. http://dx.doi.org/10.1182/blood.v118.21.1718.1718.

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Abstract Abstract 1718 Cytogenetic findings in bone marrow cells of MDS patients are essential for a correct diagnosis and classification of the disease and constitute one of the most important independent prognostic factors. The classical cytogenetic analysis, however, often cannot be fully resolved by G-banding because of the presence of marker chromosomes, rings or unidentified material attached to chromosomes. Spectral karyotyping (SKY) has proven to be an important tool for the interpretation of complex karyotypes or identification of suitable abnormalities in hematological malignancies. By using SKY analysis in combination with G-banding were identified new clonal chromosomal abnormalities “masked” by the limited resolution of classical cytogenetic. As a consequence changes in IPSS score were observed. Bone marrow samples of 46 (forty-six) MDS patients were incubated in RPMI 1640 with 20% fetal calf serum for 72h at 37°C. Chromosome preparations were obtained by using standard procedures and the subsequent cytogenetic analysis and interpretation were made according to ISCN 2009. The patients studied were classified as refractory anemia (RA) and refractory anemia with ringed sideroblast (RARS), with less than 5% blast. Slides for SKY were prepared by using the same fixed chromosome preparations, stored at −20°C, as employed for G-banding analysis. Chromosome labeling was performed with the SKY fluorescent labeling kit (Applied Spectral Imaging, Migdal HaEmek, Israel) according to the manufacturer's protocol. A minimum of twenty metaphases were analyzed using the SkyView 5.5 software (ASI, Carlsbad, CA, USA). In a group of 46 subjects studied, the cytogenetic analysis (G-banding) showed chromosomal aberrations in 13 patients (54.2%) and normal karyotype was observed in 11 subjects (45.8%). The abnormalities observed were dup(1)(q21q32), inv(3)(q21q26), t(3;3)(q21;q26), +4, del(5)(q31), −7, del(7)(q22q36), +8, add(17)(p12), +i(17)(q10), del(20)(q11). The group with normal cytogenetic, SKY analysis revealed “masked” chromosomal abnormalities in 6 patients, being t(7;9)(q36;q34), ins(1;6)(q21;?), t(11;12)(p15;q24.1), ins(3;5)(p21;?), t(8;16)(q23;?) and ins(6;11)(q21;?). Among 13 cases studied with previous chromosomal abnormalities by G-banding analysis, SKY identified additional abnormalities in 8 patients. Some abnormalities found include t(6;9)(q27;q22), t(12;17)(p13;p12) and t(8;11)(p12;q12). For both groups with normal and altered karyotypes, the profile of masked chromosomal abnormalities seen were insertions and translocations involving small segments of chromosomes. In the majority of the cases the frequency of abnormal clones was less than 50%. However, in all patients the abnormalities identified by SKY were classified as clonal. All abnormalities identified were confirmed by FISH, by using a set of probes. SKY analysis has proved to be a promising and reliable method for identification of additional and complex chromosomal abnormalities usually present in a great number of human neoplasias. The contribution for the prognostic information of these new chromosomal abnormalities identified beyond the limited resolution of G-banding in MDS will require a detail analysis of the patients' evolution. Financial Support: FAPESP (Proc. 07/52462-7) Disclosures: No relevant conflicts of interest to declare.
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39

Uckun, FM, KJ Gajl-Peczalska, AJ Provisor, and NA Heerema. "Immunophenotype-karyotype associations in human acute lymphoblastic leukemia." Blood 73, no. 1 (January 1, 1989): 271–80. http://dx.doi.org/10.1182/blood.v73.1.271.271.

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Abstract The present study is a detailed analysis of the cytogenetic features of leukemic cells from 104 immunologically classified acute lymphoblastic leukemia (ALL) (78 B lineage and 26 T lineage) cases. Clonal chromosomal abnormalities were found in marrow blasts from 77 of 104 (74%) cases. Hyperdiploidy was much more frequent in B-lineage ALL cases, whereas normal diploidy was more common in T-lineage ALL cases. Fifty-nine of 104 cases (46 of 78 B-lineage ALL and 13 of 26 T-lineage ALL cases) had structural chromosomal abnormalities. Structural abnormalities involving 2p11, 7p13, 7p22, proximal q arm of 7 (7q11 or 7q22), 11q23–24, and translocations involving 12p11–13 appeared to be B- lineage specific. By comparison, structural abnormalities involving 7p15, 7q32, and 14q11 displayed T-lineage specificity. Structural abnormalities involving 9p22-p23 or 14q32, del (6)(q21-q23), del (12)(p11-p13), and the Philadelphia chromosome were found in B-lineage as well as T-lineage ALL cases. This study expands the current knowledge about immunophenotype-karyotype associations in ALL.
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40

Uckun, FM, KJ Gajl-Peczalska, AJ Provisor, and NA Heerema. "Immunophenotype-karyotype associations in human acute lymphoblastic leukemia." Blood 73, no. 1 (January 1, 1989): 271–80. http://dx.doi.org/10.1182/blood.v73.1.271.bloodjournal731271.

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The present study is a detailed analysis of the cytogenetic features of leukemic cells from 104 immunologically classified acute lymphoblastic leukemia (ALL) (78 B lineage and 26 T lineage) cases. Clonal chromosomal abnormalities were found in marrow blasts from 77 of 104 (74%) cases. Hyperdiploidy was much more frequent in B-lineage ALL cases, whereas normal diploidy was more common in T-lineage ALL cases. Fifty-nine of 104 cases (46 of 78 B-lineage ALL and 13 of 26 T-lineage ALL cases) had structural chromosomal abnormalities. Structural abnormalities involving 2p11, 7p13, 7p22, proximal q arm of 7 (7q11 or 7q22), 11q23–24, and translocations involving 12p11–13 appeared to be B- lineage specific. By comparison, structural abnormalities involving 7p15, 7q32, and 14q11 displayed T-lineage specificity. Structural abnormalities involving 9p22-p23 or 14q32, del (6)(q21-q23), del (12)(p11-p13), and the Philadelphia chromosome were found in B-lineage as well as T-lineage ALL cases. This study expands the current knowledge about immunophenotype-karyotype associations in ALL.
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41

Mottola, Filomena, Marianna Santonastaso, Valentina Ronga, Renata Finelli, and Lucia Rocco. "Polymorphic Rearrangements of Human Chromosome 9 and Male Infertility: New Evidence and Impact on Spermatogenesis." Biomolecules 13, no. 5 (April 23, 2023): 729. http://dx.doi.org/10.3390/biom13050729.

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Chromosomal polymorphisms are structural variations in chromosomes that define the genomic variance of a species. These alterations are recurrent in the general population, and some of them appear to be more recurrent in the infertile population. Human chromosome 9 is highly heteromorphic, and how its rearrangement affects male fertility remains to be fully investigated. In this study, we aimed to investigate the association between the polymorphic rearrangements of chromosome 9 and male infertility via an Italian cohort of male infertile patients. Cytogenetic analysis was carried out, along with Y microdeletion screening, semen analysis, fluorescence in situ hybridization, and TUNEL assays using spermatic cells. Chromosome 9 rearrangements were observed in six patients: three of them showed a pericentric inversion, while the others showed a polymorphic heterochromatin variant 9qh. Of these, four patients exhibited oligozoospermia associated with teratozoospermia, along with a percentage of aneuploidy in the sperm of above 9%, in particular, an increase in XY disomy. Additionally, high values for sperm DNA fragmentation (≥30%) were observed in two patients. None of them had microdeletions to the AZF loci on chromosome Y. Our results suggest that polymorphic rearrangements of chromosome 9 might be associated with abnormalities in sperm quality due to incorrect spermatogenesis regulation.
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42

Márquez, Carmen, Mireia Sandalinas, Muhterem Bahçe, Mina Al ikani, and Santiago Munné. "Chromosome abnormalities in 1255 cleavage-stage human embryos." Reproductive BioMedicine Online 1, no. 1 (January 2000): 17–26. http://dx.doi.org/10.1016/s1472-6483(10)61988-8.

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43

Sozzi, Gabriella, Monica Miozzo, Carla Calderone, Giuseppe Fossati, Marco A. Pierotti, Natale Cascinelli, and Giuseppe Della Porta. "Chromosome abnormalities and fragile sites in human melanoma." Cancer Genetics and Cytogenetics 44, no. 1 (January 1990): 61–67. http://dx.doi.org/10.1016/0165-4608(90)90198-j.

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44

Casalone, R., P. Granata, E. Minelli, P. Portentoso, R. Righi, A. Giudici, B. Zanzi, and P. Castelli. "Clonal chromosome abnormalities in human atherosclerotic fibrous plaques." Cancer Genetics and Cytogenetics 52, no. 2 (April 1991): 262. http://dx.doi.org/10.1016/0165-4608(91)90552-6.

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45

Viotti, Manuel. "Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements." Genes 11, no. 6 (May 29, 2020): 602. http://dx.doi.org/10.3390/genes11060602.

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There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART). Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; much of the naturally low human fecundity as well as low success rates of ART can be ascribed to these cytogenetic defects. Chromosomal anomalies are also responsible for a large proportion of miscarriages and congenital disorders. There is therefore tremendous value in methods that identify embryos containing chromosomal abnormalities before intrauterine transfer to a patient being treated for infertility—the goal being the exclusion of affected embryos in order to improve clinical outcomes. This is the rationale behind preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangements (-SR). Contemporary methods are capable of much more than detecting whole chromosome abnormalities (e.g., monosomy/trisomy). Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containing a mix of normal and abnormal cells), as well as the detection of sub-chromosomal abnormalities such as segmental deletions and duplications. Earlier approaches to screening for chromosomal abnormalities yielded a binary result of normal versus abnormal, but the new refinements in the system call for new categories, each with specific clinical outcomes and nuances for clinical management. This review intends to give an overview of PGT-A and -SR, emphasizing recent advances and areas of active development.
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46

Aguilera, C., D. Veraguas, C. Henriquez, A. Velasquez, F. O. Castro, and L. Rodriguez-Alvarez. "80 Evaluation of extracellular vesicles from culture medium of human embryos as a possible method of pre-implantation genetic diagnosis." Reproduction, Fertility and Development 32, no. 2 (2020): 166. http://dx.doi.org/10.1071/rdv32n2ab80.

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Noninvasive methods are the clue to increase the efficiency of invitro-derived embryo selection without decreasing their competence. Embryos selection based on their morphology is the most used method but only 40% of selected embryos are able to implant and develop correctly. In humans, pre-implantation genetic diagnosis increases the efficiency of selection by excluding embryos with chromosomal abnormalities. However, pre-implantation genetic diagnosis needs embryonic cells, which might compromise embryo viability. On the other hand, embryos release extracellular vesicles (EVs: microvesicles and exosomes) to the culture medium that contain biological cargo-like proteins and mRNA lipids, and might contain genomic DNA (gDNA). For this study we evaluated the culture medium from embryos generated by intracytoplasmic sperm injection in a certified fertility clinic. Embryos were cultured in Global Total serum-free medium. The embryos were assessed at Day 3 of development and classified in three categories: top, fair, and poor quality. Corresponding medium was collected for isolation of EVs. The nature of EVs was confirmed by their size and concentration using nanoparticle tracking analysis (NTA), presence of surface markers (CD9, CD63, CD81, and CD40L), and morphology using transmission electron microscopy. A correlation analysis between NTA results (EV size and concentration) and embryo quality was performed. To evaluate chromosomal abnormalities of gDNA present in isolated EVs from embryo culture medium, microarray-based comparative genomic hybridization (aCGH) assay was performed. In a second experiment, aCGH analysis was performed and compared between arrested embryos and EVs isolated from corresponding culture medium. Isolated nanoparticles from embryo culture medium were positive to all markers CD9 (30.9%), CD63 (27.2%), CD81 (31.7%), CD40L (8.7%) and had a morphology accordingly to exosomes. The analysis of NTA data indicated that top-quality embryos had EVs with higher diameter (mean: 112.17nm, mode: 91.74nm) than embryos classified as fair (mean: 108.02nm, mode: 89.67nm) and poor quality (mean: 102.78nm, mode: 88.17 nm; P&lt;0.05). The aCGH analysis showed the representation of the 23 pairs of chromosomes in EVs from culture medium and the chromosomal abnormalities were detected in chromosome 4 (C4: 6/15 (40%)) and chromosome 13 (C13: 6/15 (40%)). In the second experiment, the aCGH assay also showed abnormalities in different chromosomes from samples of EVs from culture medium (24.9%) and were more frequent than those observed in the arrested embryos (8.7%; P=0.03). However, the rate of similitude in chromosomal abnormalities between EVs and their respective embryo was 70-80%. In conclusion, the size and gDNA of EVs from culture medium might be an alternative to evaluate the competence of human embryos. This research was supported by FONDECYT-1170310 and Corfo 17Cote-72437, Chile.
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47

Sheppard, Olivia, Frances K. Wiseman, Aarti Ruparelia, Victor L. J. Tybulewicz, and Elizabeth M. C. Fisher. "Mouse Models of Aneuploidy." Scientific World Journal 2012 (2012): 1–6. http://dx.doi.org/10.1100/2012/214078.

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Abnormalities of chromosome copy number are called aneuploidies and make up a large health load on the human population. Many aneuploidies are lethal because the resulting abnormal gene dosage is highly deleterious. Nevertheless, some whole chromosome aneuploidies can lead to live births. Alterations in the copy number of sections of chromosomes, which are also known as segmental aneuploidies, are also associated with deleterious effects. Here we examine how aneuploidy of whole chromosomes and segmental aneuploidy of chromosomal regions are modeled in the mouse. These models provide a whole animal system in which we aim to investigate the complex phenotype-genotype interactions that arise from alteration in the copy number of genes. Although our understanding of this subject is still in its infancy, already research in mouse models is highlighting possible therapies that might help alleviate the cognitive effects associated with changes in gene number. Thus, creating and studying mouse models of aneuploidy and copy number variation is important for understanding what it is to be human, in both the normal and genomically altered states.
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Jimenez-Zepeda, Victor H., Wee Joo Chng, Esteban Braggio, Neil Kay, Jose Leis, and Rafael Fonseca. "Recurrent Chromosome Abnormalities Define Non-Overlapping, Unique Subgroups of Tumors in Chronic Lymphocytic Leukemia Patients with Known Karyotypic Abnormalities." Blood 112, no. 11 (November 16, 2008): 4176. http://dx.doi.org/10.1182/blood.v112.11.4176.4176.

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Abstract Background B-cell chronic lymphocytic leukemia (B-CLL) is a well-defined clinical entity with heterogeneous molecular and cytogenetic features. Chromosome aberrations could be associated to specific CLL clinical features and outcomes and their impact on clonal evolution should have been addressed by using temporal analysis. In order to demonstrate the role of temporal analysis in CLL we conducted a comprehensive karyotypic survey of a large number of CLL cases with already known genetic aberrations to fully describe their meaning in terms of biological evolution. Methods A total of 1749 karyotypes were retrieved from the Mitelman Database of Chromosome Aberrations in Cancer. A matrix depicting the 360-band human chromosome ideogram was created. Regions that were either lost or gained in more than 3% of the cases were retained and identified as recurrent imbalances. Early and late imbalances were defined according to the appearance on the complex karyotypes. Descriptive statistics were used to summarize the genetic abnormalities. Results The median chromosome number and the median number of abnormalities per tumor (NAPT) were 46 and 1 respectively. (Figure 1 A and 1B) The most common abnormality seen was trisomy 12 which occurred in 29% (508 cases) followed by 13q14del (10.34%), 13q13del (6.63%) and add14q32 (6.63%). The temporal analysis revealed +12, 13q-, −17, 17p-, −Y and −X to be early imbalances (TO&lt;5), followed predominately by a late loss with TO=5–10.5 (11q-). Hierarchical clustering suggested there are different groups including: trisomy 12, 13q-, 11q-, and 6q-, which at least in this clustering analysis appeared to be mutually exclusive. In summary, we can conclude that overall CLL is a neoplasia that shows remarkable chromosome stability even when only abnormal karyotypes are evaluated. Interestingly, clustering analysis suggests there are non-overlapping, unique subsets of CLL cases where trisomy 12 is the most common and along with 13q-emerged as early events on CLL clonal evolution. Figure 1A. Chromosomes distribution in chronic Lymphocytes Leukemia karyotypes Figure 1A. Chromosomes distribution in chronic Lymphocytes Leukemia karyotypes Figure 1b. Chronic Lymphocytes Leukemia and Number of Abnormalities Per Tumor (NAPT) distribution Figure 1b. Chronic Lymphocytes Leukemia and Number of Abnormalities Per Tumor (NAPT) distribution Figure Figure
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49

de Kretser, D. M., C. Mallidis, K. Ma, and S. Bhasin. "Y Chromosome deletions and male infertility." Reproductive Medicine Review 6, no. 1 (March 1997): 37–53. http://dx.doi.org/10.1017/s0962279900001393.

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Approximately one in ten couples experience infertility, and in about 40% of these infertile unions there are abnormalities in the fertility of the male partner. The clinical management of these infertile men is less than satisfactory because in 40% of such patients the cause of the abnormalities of sperm production and quality is unknown. The possibility that genetic disorders may account for a proportion of these disturbances of sperm production has been raised. It is well recognized that chromosomal abnormalities such as Klinefelter's syndrome cause azoospermia and that gene defects are the basis of testicular feminization, Kallman's syndrome and Reifenstein's syndrome. With the explosion in our knowledge of the human genome, the possibility exists that other genetic disorders may form the basis of other sperma-togenic abnormalities. The past decade has witnessed the accumulation of evidence linking abnormalities of the Y chromosome with disturbances in sperm production and these observations form the basis of this review.
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50

Nguyen, C., M. G. Mattei, J. F. Mattei, M. J. Santoni, C. Goridis, and B. R. Jordan. "Localization of the human NCAM gene to band q23 of chromosome 11: the third gene coding for a cell interaction molecule mapped to the distal portion of the long arm of chromosome 11." Journal of Cell Biology 102, no. 3 (March 1, 1986): 711–15. http://dx.doi.org/10.1083/jcb.102.3.711.

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cDNA clones containing sequences coding for the murine neural cell adhesion molecule (N-CAM) were used in Southern hybridizations on human genomic DNA and demonstrated approximately 90% homology between human and murine NCAM genes. In situ hybridization with one of these clones was performed on human metaphase chromosomes and allowed the localization of the human NCAM gene to band q23 of chromosome 11. The genes for two other cell surface molecules believed to be involved in cell-cell interactions, Thy-1 and the delta chain of the T3-T cell receptor complex, have recently been localized to the same region of chromosome 11 in man. Moreover, this region of the human chromosome 11 appears to be syntenic to a region of murine chromosome 9 that also contains the staggerer locus: staggerer mice show abnormal neurological features which may be related to abnormalities in the conversion of the embryonic to the adult forms of the N-CAM molecule.
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