Isodisomy
Isodisomy is a form of uniparental disomy in which both copies 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]
| Isodisomy | |
|---|---|
| Specialty | Obstetrics, pediatrics |
| Symptoms | variable |
| Causes | Genetic and environmental factors |
| Diagnostic method | Amniocentesis, medical imaging |
| Deaths | sometimes fatal |
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]
References
- 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.
- Leveno, 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.
Bibliography
- Leveno, Kenneth (2013). Williams manual of pregnancy complications. New York: McGraw-Hill Medical. ISBN 9780071765626.
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