Isodisomy

Isodisomy
Specialty Obstetrics, Pediatrics
Symptoms variable
Causes Genetic and environmental factors
Diagnostic method Amniocentesis, medical imaging
Deaths sometimes fatal

Isodisomy is a non-mendelian trait in humans caused by both copies of a chromosomal set being inherited from the biological mother or the father. It differs from uniparental disomy in that instead of receiving an identical set of chromosomes from one parent, the fertilized ovum contains a complete set of chromosomes from one parent resulting in a complete set of chromosomes from only one parent.[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]

References

  1. 1 2 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). doi:10.1186/s13039-015-0190-z. ISSN 1755-8166.
  2. 1 2 Leveno, 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): 802–802. doi:10.1038/353802b0. ISSN 0028-0836.

Bibliography

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


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