Chromosome abnormality (English Wikipedia)

Rieger, R., Michaelis, A., Green, M.M. (1968). "Mutation". A glossary of genetics and cytogenetics: Classical and molecular. New York: Springer-Verlag. ISBN 978-0-387-07668-3.

atlasgeneticsoncology.org

"Chromosome Abnormalities". atlasgeneticsoncology.org. Archived from the original on 14 August 2006. Retrieved 9 May 2018.
"Chromosomes, Leukemias, Solid Tumors, Hereditary Cancers". atlasgeneticsoncology.org. Archived from the original on 28 January 2015. Retrieved 9 May 2018.

bioscientifica.com

rep.bioscientifica.com

Baarends W (2001-01-01). "DNA repair mechanisms and gametogenesis". Reproduction. 121 (1): 31–39. doi:10.1530/reprod/121.1.31. hdl:1765/9599. ISSN 1470-1626.

coriell.org

"ISCN Symbols and Abbreviated Terms". Coriell Institute for Medical Research. Retrieved 2022-10-27.

creativecommons.org

Warrender JD, Moorman AV, Lord P (2019). "A fully computational and reasonable representation for karyotypes". Bioinformatics. 35 (24): 5264–5270. doi:10.1093/bioinformatics/btz440. PMC 6954653. PMID 31228194.
- "This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/)"

doi.org

Orr B, Godek KM, Compton D (2015-06-29). "Aneuploidy". Current Biology. 25 (13): R538 – R542. Bibcode:2015CBio...25.R538O. doi:10.1016/j.cub.2015.05.010. ISSN 0960-9822. PMC 4714037. PMID 26126276.
Potapova T, Gorbsky G (2017-02-08). "The Consequences of Chromosome Segregation Errors in Mitosis and Meiosis". Biology. 6 (1): 12. doi:10.3390/biology6010012. ISSN 2079-7737. PMC 5372005. PMID 28208750.
Patterson D (2009-07-01). "Molecular genetic analysis of Down syndrome". Human Genetics. 126 (1): 195–214. doi:10.1007/s00439-009-0696-8. ISSN 1432-1203. PMID 19526251. S2CID 10403507.
Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa". Mol. Hum. Reprod. 19 (10): 634–43. doi:10.1093/molehr/gat039. PMID 23720770.
Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. Dev. 59 (4): 417–21. doi:10.1002/mrd.1048. PMID 11468778. S2CID 35230655.
Rubes J, Lowe X, Moore D, Perreault S, Slott V, Evenson D, Selevan SG, Wyrobek AJ (1998). "Smoking cigarettes is associated with increased sperm disomy in teenage men". Fertil. Steril. 70 (4): 715–23. doi:10.1016/S0015-0282(98)00261-1. PMID 9797104.
Xing C, Marchetti F, Li G, Weldon RH, Kurtovich E, Young S, Schmid TE, Zhang L, Rappaport S, Waidyanatha S, Wyrobek AJ, Eskenazi B (2010). "Benzene exposure near the U.S. permissible limit is associated with sperm aneuploidy". Environ. Health Perspect. 118 (6): 833–9. Bibcode:2010EnvHP.118..833X. doi:10.1289/ehp.0901531. PMC 2898861. PMID 20418200.
Xia Y, Bian Q, Xu L, Cheng S, Song L, Liu J, Wu W, Wang S, Wang X (2004). "Genotoxic effects on human spermatozoa among pesticide factory workers exposed to fenvalerate". Toxicology. 203 (1–3): 49–60. Bibcode:2004Toxgy.203...49X. doi:10.1016/j.tox.2004.05.018. PMID 15363581. S2CID 36073841.
Xia Y, Cheng S, Bian Q, Xu L, Collins MD, Chang HC, Song L, Liu J, Wang S, Wang X (2005). "Genotoxic effects on spermatozoa of carbaryl-exposed workers". Toxicol. Sci. 85 (1): 615–23. doi:10.1093/toxsci/kfi066. PMID 15615886.
Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds". Andrologia. 47 (9): 1012–9. doi:10.1111/and.12371. hdl:11365/982323. PMID 25382683. S2CID 13484513.
McFadden DE, Friedman JM (1997-12-12). "Chromosome abnormalities in human beings". Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 396 (1): 129–140. Bibcode:1997MRFMM.396..129M. doi:10.1016/S0027-5107(97)00179-6. ISSN 0027-5107. PMID 9434864.
Liu Y, Shen J, Yang R, Zhang Y, Jia L, Guan Y (2022-03-19). Bevilacqua A (ed.). "The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles". International Journal of Endocrinology. 2022: 1–11. doi:10.1155/2022/9707081. ISSN 1687-8345. PMC 8957472. PMID 35345425.
Mohiuddin M, Kooy RF, Pearson CE (2022-09-26). "De novo mutations, genetic mosaicism and human disease". Frontiers in Genetics. 13. doi:10.3389/fgene.2022.983668. ISSN 1664-8021. PMC 9550265. PMID 36226191.
Acuna-Hidalgo R, Veltman JA, Hoischen A (2016-11-28). "New insights into the generation and role of de novo mutations in health and disease". Genome Biology. 17 (1): 241. doi:10.1186/s13059-016-1110-1. ISSN 1474-760X. PMC 5125044. PMID 27894357.
McGranahan N, Burrell RA, Endesfelder D, Novelli MR, Swanton C (June 2012). "Cancer chromosomal instability: therapeutic and diagnostic challenges". EMBO Reports. 13 (6): 528–538. doi:10.1038/embor.2012.61. ISSN 1469-221X. PMC 3367245. PMID 22595889.
Kou F, Wu L, Ren X, Yang L (June 2020). "Chromosome Abnormalities: New Insights into Their Clinical Significance in Cancer". Molecular Therapy - Oncolytics. 17: 562–570. doi:10.1016/j.omto.2020.05.010. ISSN 2372-7705. PMC 7321812. PMID 32637574.
Chaganti RS, Nanjangud G, Schmidt H, Teruya-Feldstein J (October 2000). "Recurring chromosomal abnormalities in non-Hodgkin's lymphoma: biologic and clinical significance". Seminars in Hematology. 37 (4): 396–411. doi:10.1016/s0037-1963(00)90019-2. ISSN 0037-1963. PMID 11071361.
Baarends W (2001-01-01). "DNA repair mechanisms and gametogenesis". Reproduction. 121 (1): 31–39. doi:10.1530/reprod/121.1.31. hdl:1765/9599. ISSN 1470-1626.
Talibova G, Bilmez Y, Ozturk S (October 2022). "DNA double-strand break repair in male germ cells during spermatogenesis and its association with male infertility development". DNA Repair. 118: 103386. doi:10.1016/j.dnarep.2022.103386. PMID 35963140.
Marchetti F, Bishop J, Gingerich J, Wyrobek AJ (2015-01-08). "Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair". Scientific Reports. 5 (1): 7689. Bibcode:2015NatSR...5.7689M. doi:10.1038/srep07689. ISSN 2045-2322. PMC 4286742. PMID 25567288.
Cao Y, Wang S, Qin Z, Xiong Q, Liu J, Li W, Li L, Ao F, Wei Z, Wang L (2025-02-24). "Male germ cells with Bag5 deficiency show reduced spermiogenesis and exchange of basic nuclear proteins". Cellular and Molecular Life Sciences. 82 (1): 92. doi:10.1007/s00018-025-05591-2. ISSN 1420-9071. PMC 11850669. PMID 39992433.
Wang Y, Fu X, Li H (2025-02-05). "Mechanisms of oxidative stress-induced sperm dysfunction". Frontiers in Endocrinology. 16. doi:10.3389/fendo.2025.1520835. ISSN 1664-2392. PMC 11835670. PMID 39974821.
Sharma P, Kaushal N, Saleth LR, Ghavami S, Dhingra S, Kaur P (August 2023). "Oxidative stress-induced apoptosis and autophagy: Balancing the contrary forces in spermatogenesis". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1869 (6): 166742. doi:10.1016/j.bbadis.2023.166742.
Li N, Wang H, zou S, Yu X, Li J (January 2025). "Perspective in the Mechanisms for Repairing Sperm DNA Damage". Reproductive Sciences. 32 (1): 41–51. doi:10.1007/s43032-024-01714-5. ISSN 1933-7191. PMC 11729216. PMID 39333437.
Marchetti F, Essers J, Kanaar R, Wyrobek AJ (2007-11-06). "Disruption of maternal DNA repair increases sperm-derived chromosomal aberrations". Proceedings of the National Academy of Sciences. 104 (45): 17725–17729. Bibcode:2007PNAS..10417725M. doi:10.1073/pnas.0705257104. ISSN 0027-8424. PMC 2077046. PMID 17978187.
Deans AJ, West SC (July 2011). "DNA interstrand crosslink repair and cancer". Nature Reviews Cancer. 11 (7): 467–480. doi:10.1038/nrc3088. ISSN 1474-175X. PMC 3560328. PMID 21701511.
Zini A (2006-08-29). "Sperm DNA damage: clinical significance in the era of assisted reproduction". Canadian Medical Association Journal. 175 (5): 495–500. doi:10.1503/cmaj.060218. ISSN 0820-3946. PMC 1550758. PMID 16940270.
Fonda Allen J, Stoll K, Bernhardt BA (2016-02-01). "Pre- and post-test genetic counseling for chromosomal and Mendelian disorders". Seminars in Perinatology. The Changing Paradigm of Perinatal screening for Birth Defects. 40 (1): 44–55. doi:10.1053/j.semperi.2015.11.007. ISSN 0146-0005. PMC 4826755. PMID 26718445.
Hixson L, Goel S, Schuber P, Faltas V, Lee J, Narayakkadan A, Leung H, Osborne J (2015-10-01). "An Overview on Prenatal Screening for Chromosomal Aberrations". SLAS Technology. 20 (5): 562–573. doi:10.1177/2211068214564595. ISSN 2472-6303. PMID 25587000.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J (2023). "Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma". European Journal of Haematology. 110 (3): 296–304. doi:10.1111/ejh.13905. ISSN 1600-0609. PMC 10107198. PMID 36433728.
Imataka G, Arisaka O (2012-01-01). "Chromosome Analysis Using Spectral Karyotyping (SKY)". Cell Biochemistry and Biophysics. 62 (1): 13–17. doi:10.1007/s12013-011-9285-2. ISSN 1559-0283. PMC 3254861. PMID 21948110.
Warrender JD, Moorman AV, Lord P (2019). "A fully computational and reasonable representation for karyotypes". Bioinformatics. 35 (24): 5264–5270. doi:10.1093/bioinformatics/btz440. PMC 6954653. PMID 31228194.
- "This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/)"

elsevier.com

linkinghub.elsevier.com

Talibova G, Bilmez Y, Ozturk S (October 2022). "DNA double-strand break repair in male germ cells during spermatogenesis and its association with male infertility development". DNA Repair. 118: 103386. doi:10.1016/j.dnarep.2022.103386. PMID 35963140.
Sharma P, Kaushal N, Saleth LR, Ghavami S, Dhingra S, Kaur P (August 2023). "Oxidative stress-induced apoptosis and autophagy: Balancing the contrary forces in spermatogenesis". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1869 (6): 166742. doi:10.1016/j.bbadis.2023.166742.

facingourrisk.org

"Inherited Mutations and Cancer". Inherited Mutations and Cancer. Retrieved 2025-03-31.
"Inherited Mutations and Cancer". Inherited Mutations and Cancer. Retrieved 2025-03-31.

genome.gov

NHGRI. 2006. Chromosome Abnormalities Archived 2006-09-25 at the Wayback Machine

handle.net

hdl.handle.net

Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds". Andrologia. 47 (9): 1012–9. doi:10.1111/and.12371. hdl:11365/982323. PMID 25382683. S2CID 13484513.
Baarends W (2001-01-01). "DNA repair mechanisms and gametogenesis". Reproduction. 121 (1): 31–39. doi:10.1530/reprod/121.1.31. hdl:1765/9599. ISSN 1470-1626.

harvard.edu

ui.adsabs.harvard.edu

Orr B, Godek KM, Compton D (2015-06-29). "Aneuploidy". Current Biology. 25 (13): R538 – R542. Bibcode:2015CBio...25.R538O. doi:10.1016/j.cub.2015.05.010. ISSN 0960-9822. PMC 4714037. PMID 26126276.
Xing C, Marchetti F, Li G, Weldon RH, Kurtovich E, Young S, Schmid TE, Zhang L, Rappaport S, Waidyanatha S, Wyrobek AJ, Eskenazi B (2010). "Benzene exposure near the U.S. permissible limit is associated with sperm aneuploidy". Environ. Health Perspect. 118 (6): 833–9. Bibcode:2010EnvHP.118..833X. doi:10.1289/ehp.0901531. PMC 2898861. PMID 20418200.
Xia Y, Bian Q, Xu L, Cheng S, Song L, Liu J, Wu W, Wang S, Wang X (2004). "Genotoxic effects on human spermatozoa among pesticide factory workers exposed to fenvalerate". Toxicology. 203 (1–3): 49–60. Bibcode:2004Toxgy.203...49X. doi:10.1016/j.tox.2004.05.018. PMID 15363581. S2CID 36073841.
McFadden DE, Friedman JM (1997-12-12). "Chromosome abnormalities in human beings". Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 396 (1): 129–140. Bibcode:1997MRFMM.396..129M. doi:10.1016/S0027-5107(97)00179-6. ISSN 0027-5107. PMID 9434864.
Marchetti F, Bishop J, Gingerich J, Wyrobek AJ (2015-01-08). "Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair". Scientific Reports. 5 (1): 7689. Bibcode:2015NatSR...5.7689M. doi:10.1038/srep07689. ISSN 2045-2322. PMC 4286742. PMID 25567288.
Marchetti F, Essers J, Kanaar R, Wyrobek AJ (2007-11-06). "Disruption of maternal DNA repair increases sperm-derived chromosomal aberrations". Proceedings of the National Academy of Sciences. 104 (45): 17725–17729. Bibcode:2007PNAS..10417725M. doi:10.1073/pnas.0705257104. ISSN 0027-8424. PMC 2077046. PMID 17978187.

kidshealth.org

"Genetic Testing (for Parents)". kidshealth.org. Retrieved 2025-04-05.

microbenotes.com

Kapali D (2023-08-03). "Mutagens- Definition, Types (Physical, Chemical, Biological)". microbenotes.com. Retrieved 2025-03-31.

nature.com

"Chromosomal Abnormalities: Aneuploidies | Learn Science at Scitable". www.nature.com. Retrieved 2025-04-04.

nih.gov

pubmed.ncbi.nlm.nih.gov

Orr B, Godek KM, Compton D (2015-06-29). "Aneuploidy". Current Biology. 25 (13): R538 – R542. Bibcode:2015CBio...25.R538O. doi:10.1016/j.cub.2015.05.010. ISSN 0960-9822. PMC 4714037. PMID 26126276.
Queremel Milani DA, Tadi P (2025), "Genetics, Chromosome Abnormalities", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 32491623, retrieved 2025-04-03
Potapova T, Gorbsky G (2017-02-08). "The Consequences of Chromosome Segregation Errors in Mitosis and Meiosis". Biology. 6 (1): 12. doi:10.3390/biology6010012. ISSN 2079-7737. PMC 5372005. PMID 28208750.
Patterson D (2009-07-01). "Molecular genetic analysis of Down syndrome". Human Genetics. 126 (1): 195–214. doi:10.1007/s00439-009-0696-8. ISSN 1432-1203. PMID 19526251. S2CID 10403507.
Templado C, Uroz L, Estop A (2013). "New insights on the origin and relevance of aneuploidy in human spermatozoa". Mol. Hum. Reprod. 19 (10): 634–43. doi:10.1093/molehr/gat039. PMID 23720770.
Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. Dev. 59 (4): 417–21. doi:10.1002/mrd.1048. PMID 11468778. S2CID 35230655.
Rubes J, Lowe X, Moore D, Perreault S, Slott V, Evenson D, Selevan SG, Wyrobek AJ (1998). "Smoking cigarettes is associated with increased sperm disomy in teenage men". Fertil. Steril. 70 (4): 715–23. doi:10.1016/S0015-0282(98)00261-1. PMID 9797104.
Xing C, Marchetti F, Li G, Weldon RH, Kurtovich E, Young S, Schmid TE, Zhang L, Rappaport S, Waidyanatha S, Wyrobek AJ, Eskenazi B (2010). "Benzene exposure near the U.S. permissible limit is associated with sperm aneuploidy". Environ. Health Perspect. 118 (6): 833–9. Bibcode:2010EnvHP.118..833X. doi:10.1289/ehp.0901531. PMC 2898861. PMID 20418200.
Xia Y, Bian Q, Xu L, Cheng S, Song L, Liu J, Wu W, Wang S, Wang X (2004). "Genotoxic effects on human spermatozoa among pesticide factory workers exposed to fenvalerate". Toxicology. 203 (1–3): 49–60. Bibcode:2004Toxgy.203...49X. doi:10.1016/j.tox.2004.05.018. PMID 15363581. S2CID 36073841.
Xia Y, Cheng S, Bian Q, Xu L, Collins MD, Chang HC, Song L, Liu J, Wang S, Wang X (2005). "Genotoxic effects on spermatozoa of carbaryl-exposed workers". Toxicol. Sci. 85 (1): 615–23. doi:10.1093/toxsci/kfi066. PMID 15615886.
Governini L, Guerranti C, De Leo V, Boschi L, Luddi A, Gori M, Orvieto R, Piomboni P (2014). "Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds". Andrologia. 47 (9): 1012–9. doi:10.1111/and.12371. hdl:11365/982323. PMID 25382683. S2CID 13484513.
Rayi A, Hozayen S (2025), "Chromosome Instability Syndromes", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 30725883, retrieved 2025-04-04
McFadden DE, Friedman JM (1997-12-12). "Chromosome abnormalities in human beings". Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 396 (1): 129–140. Bibcode:1997MRFMM.396..129M. doi:10.1016/S0027-5107(97)00179-6. ISSN 0027-5107. PMID 9434864.
Basta M, Pandya AM (2025), "Genetics, X-Linked Inheritance", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 32491315, retrieved 2025-04-05
Liu Y, Shen J, Yang R, Zhang Y, Jia L, Guan Y (2022-03-19). Bevilacqua A (ed.). "The Relationship between Human Embryo Parameters and De Novo Chromosomal Abnormalities in Preimplantation Genetic Testing Cycles". International Journal of Endocrinology. 2022: 1–11. doi:10.1155/2022/9707081. ISSN 1687-8345. PMC 8957472. PMID 35345425.
Mohiuddin M, Kooy RF, Pearson CE (2022-09-26). "De novo mutations, genetic mosaicism and human disease". Frontiers in Genetics. 13. doi:10.3389/fgene.2022.983668. ISSN 1664-8021. PMC 9550265. PMID 36226191.
Acuna-Hidalgo R, Veltman JA, Hoischen A (2016-11-28). "New insights into the generation and role of de novo mutations in health and disease". Genome Biology. 17 (1): 241. doi:10.1186/s13059-016-1110-1. ISSN 1474-760X. PMC 5125044. PMID 27894357.
McGranahan N, Burrell RA, Endesfelder D, Novelli MR, Swanton C (June 2012). "Cancer chromosomal instability: therapeutic and diagnostic challenges". EMBO Reports. 13 (6): 528–538. doi:10.1038/embor.2012.61. ISSN 1469-221X. PMC 3367245. PMID 22595889.
Kou F, Wu L, Ren X, Yang L (June 2020). "Chromosome Abnormalities: New Insights into Their Clinical Significance in Cancer". Molecular Therapy - Oncolytics. 17: 562–570. doi:10.1016/j.omto.2020.05.010. ISSN 2372-7705. PMC 7321812. PMID 32637574.
Chaganti RS, Nanjangud G, Schmidt H, Teruya-Feldstein J (October 2000). "Recurring chromosomal abnormalities in non-Hodgkin's lymphoma: biologic and clinical significance". Seminars in Hematology. 37 (4): 396–411. doi:10.1016/s0037-1963(00)90019-2. ISSN 0037-1963. PMID 11071361.
Talibova G, Bilmez Y, Ozturk S (October 2022). "DNA double-strand break repair in male germ cells during spermatogenesis and its association with male infertility development". DNA Repair. 118: 103386. doi:10.1016/j.dnarep.2022.103386. PMID 35963140.
Marchetti F, Bishop J, Gingerich J, Wyrobek AJ (2015-01-08). "Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair". Scientific Reports. 5 (1): 7689. Bibcode:2015NatSR...5.7689M. doi:10.1038/srep07689. ISSN 2045-2322. PMC 4286742. PMID 25567288.
Cao Y, Wang S, Qin Z, Xiong Q, Liu J, Li W, Li L, Ao F, Wei Z, Wang L (2025-02-24). "Male germ cells with Bag5 deficiency show reduced spermiogenesis and exchange of basic nuclear proteins". Cellular and Molecular Life Sciences. 82 (1): 92. doi:10.1007/s00018-025-05591-2. ISSN 1420-9071. PMC 11850669. PMID 39992433.
Wang Y, Fu X, Li H (2025-02-05). "Mechanisms of oxidative stress-induced sperm dysfunction". Frontiers in Endocrinology. 16. doi:10.3389/fendo.2025.1520835. ISSN 1664-2392. PMC 11835670. PMID 39974821.
Li N, Wang H, zou S, Yu X, Li J (January 2025). "Perspective in the Mechanisms for Repairing Sperm DNA Damage". Reproductive Sciences. 32 (1): 41–51. doi:10.1007/s43032-024-01714-5. ISSN 1933-7191. PMC 11729216. PMID 39333437.
Marchetti F, Essers J, Kanaar R, Wyrobek AJ (2007-11-06). "Disruption of maternal DNA repair increases sperm-derived chromosomal aberrations". Proceedings of the National Academy of Sciences. 104 (45): 17725–17729. Bibcode:2007PNAS..10417725M. doi:10.1073/pnas.0705257104. ISSN 0027-8424. PMC 2077046. PMID 17978187.
Deans AJ, West SC (July 2011). "DNA interstrand crosslink repair and cancer". Nature Reviews Cancer. 11 (7): 467–480. doi:10.1038/nrc3088. ISSN 1474-175X. PMC 3560328. PMID 21701511.
Zini A (2006-08-29). "Sperm DNA damage: clinical significance in the era of assisted reproduction". Canadian Medical Association Journal. 175 (5): 495–500. doi:10.1503/cmaj.060218. ISSN 0820-3946. PMC 1550758. PMID 16940270.
Fonda Allen J, Stoll K, Bernhardt BA (2016-02-01). "Pre- and post-test genetic counseling for chromosomal and Mendelian disorders". Seminars in Perinatology. The Changing Paradigm of Perinatal screening for Birth Defects. 40 (1): 44–55. doi:10.1053/j.semperi.2015.11.007. ISSN 0146-0005. PMC 4826755. PMID 26718445.
Hixson L, Goel S, Schuber P, Faltas V, Lee J, Narayakkadan A, Leung H, Osborne J (2015-10-01). "An Overview on Prenatal Screening for Chromosomal Aberrations". SLAS Technology. 20 (5): 562–573. doi:10.1177/2211068214564595. ISSN 2472-6303. PMID 25587000.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J (2023). "Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma". European Journal of Haematology. 110 (3): 296–304. doi:10.1111/ejh.13905. ISSN 1600-0609. PMC 10107198. PMID 36433728.
Imataka G, Arisaka O (2012-01-01). "Chromosome Analysis Using Spectral Karyotyping (SKY)". Cell Biochemistry and Biophysics. 62 (1): 13–17. doi:10.1007/s12013-011-9285-2. ISSN 1559-0283. PMC 3254861. PMID 21948110.
Warrender JD, Moorman AV, Lord P (2019). "A fully computational and reasonable representation for karyotypes". Bioinformatics. 35 (24): 5264–5270. doi:10.1093/bioinformatics/btz440. PMC 6954653. PMID 31228194.
- "This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/)"

ncbi.nlm.nih.gov

"Chromosomal Abnormalities", Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals, Genetic Alliance, 2009-07-08, retrieved 2023-09-27
Orr B, Godek KM, Compton D (2015-06-29). "Aneuploidy". Current Biology. 25 (13): R538 – R542. Bibcode:2015CBio...25.R538O. doi:10.1016/j.cub.2015.05.010. ISSN 0960-9822. PMC 4714037. PMID 26126276.
Queremel Milani DA, Tadi P (2025), "Genetics, Chromosome Abnormalities", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 32491623, retrieved 2025-04-03
Potapova T, Gorbsky G (2017-02-08). "The Consequences of Chromosome Segregation Errors in Mitosis and Meiosis". Biology. 6 (1): 12. doi:10.3390/biology6010012. ISSN 2079-7737. PMC 5372005. PMID 28208750.
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