Part 1. Genetics
Short Specialist Review
Published Online: 15 JAN 2005
Copyright © 2005 John Wiley & Sons, Ltd
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
How to Cite
Theisen, A. P. and Shaffer, L. G. 2005. Uniparental disomy. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.2:19.
- Published Online: 15 JAN 2005
Normal, biparental inheritance of the autosomal genes results from one member of each pair of homologous chromosomes being inherited from each parent. Originally proposed as a mechanism for human genetic disease in 1980, uniparental disomy is the abnormal inheritance of a pair of homologous chromosomes from a single parent. Uniparental disomy results in a chromosomally balanced offspring who, depending on the chromosome involved, may be phenotypically normal. However, for some chromosomes, uniparental disomy may result in over- or underexpression of imprinted genes, which exhibit parent-of-origin-specific differences in expression. Numerous clinically significant syndromes, most involving differential growth and cognitive effects, are the consequence of imprinting effects unmasked by uniparental disomy.
- uniparental disomy;
- chromosome abnormalities;