Article
Uniparental disomy and human disease: an overview.
American journal of medical genetics. Part C, Seminars in medical genetics - 15 Aug 2010
Yamazawa Kazuki, Ogata Tsutomu, Ferguson-Smith Anne C
Abstract excerpt
Uniparental disomy (UPD) refers to the situation in which both homologues of a chromosomal region/segment have originated from only one parent. This can involve the entire chromosome or only a small segment. As a consequence of UPD, or uniparental duplication/deficiency of part of a chromosome, there are two types of developmental risk: aberrant dosage of genes regulated by genomic imprinting and homozygosity of...
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