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Isodisomy is a form of uniparental disomy in which both copies of a chromosome, or parts of it, are inherited from the same parent. It differs from heterodisomy in that instead of a complete pair of homologous chromosomes, the fertilized ovum contains two identical copies of a single parental chromosome. This may result in the expression of recessive traits in the offspring. Some authors use the term uniparental disomy and isodisomy interchangeably.

This genetic abnormality can result in the birth of a normal child who has no obvious disability. It is associated with abnormalities in the growth of the offspring and in the placenta. Isodisomy may be a common phenomenon in human cells, and "might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability."

References

1. ^ Liu, WeiQiang; Zhang, HuiMin; Wang, Jian; Yu, GuoJiu; Qiu, WenJun; Li, ZhiHua; Chen, Min; Choy, Kwong Wai; Sun, XiaoFang (2015). "Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations". Molecular Cytogenetics. 8 (1): 85. doi:10.1186/s13039-015-0190-z. ISSN 1755-8166. PMC 4632482. PMID 26539248.
2. ^ Leveno 2013, p. 51.
3. "Heterodisomy and isodisomy: imprinting or unmasking of a mutant recessive allele?" (PDF). Expert Reviews in Molecular Medicine. Retrieved 11 June 2017.
4. Wilkie, Andrew O. M.; Malcolm, Susan; Pembrey, Marcus E. (1991). "Isodisomy in BWS chromosomes". Nature. 353 (6347): 802. Bibcode:1991Natur.353..802W. doi:10.1038/353802b0. ISSN 0028-0836. PMID 1944556. S2CID 4340990.
5. Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A.S.; Duhoux, François P.; Wassef, Michel; Enjolras, Odile; Mulliken, John B.; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M.; Vikkula, Miikka (2013-02-07). "Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations". The American Journal of Human Genetics. 92 (2): 188–196. doi:10.1016/j.ajhg.2012.12.017. ISSN 0002-9297. PMC 3567282. PMID 23375657.

Bibliography

• Leveno, Kenneth (2013). Williams manual of pregnancy complications. New York: McGraw-Hill Medical. ISBN 9780071765626.

External links

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