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 chromosome pair being inherited from the biological mother or the father. It differs from uniparental disomy in that instead of receiving an identical pair of chromosomes from one parent, the fertilized ovum contains a complete pair of chromosomes from one parent resulting in a complete pair 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

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. PMC 4632482.
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): 802–802. doi:10.1038/353802b0. ISSN 0028-0836.

Bibliography

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

External links

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[Zhang2015-1] 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). doi:10.1186/s13039-015-0190-z. ISSN 1755-8166. PMC 4632482.

[FOOTNOTELeveno51-2] 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.

[WilkieMalcolm1991-4] 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.