Isodisomy
| Isodisomy | |
|---|---|
| Specialty | Obstetrics, pediatrics |
| Symptoms | variable |
| Causes | Genetic and environmental factors |
| Diagnostic method | Amniocentesis, medical imaging |
| Deaths | sometimes fatal |
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.[1][2] This may result in the expression of recessive traits in the offspring.[3] Some authors use the term uniparental disomy and isodisomy interchangeably.[4]
This genetic abnormality can result in the birth of a normal child who has no obvious disability.[1] It is associated with abnormalities in the growth of the offspring and in the placenta.[2] 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."[5]
References
- ^ a b 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.
- ^ a b Leveno 2013, p. 51.
- ^ "Heterodisomy and isodisomy: imprinting or unmasking of a mutant recessive allele?" (PDF). Expert Reviews in Molecular Medicine. Retrieved 11 June 2017.
- ^ 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.
- ^ 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.