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Uniparental disomy

Part 1. Genetics

1.2. Cytogenetics

Short Specialist Review

  1. Aaron P. Theisen1,
  2. Lisa G. Shaffer2

Published Online: 15 JAN 2005

DOI: 10.1002/047001153X.g102315

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

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.

Author Information

  1. 1

    Washington State University, Health Research and Education Center, Spokane, WA, USA

  2. 2

    Washington State University, Sacred Heart Medical Center, Spokane, WA, USA

Publication History

  1. 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;
  • imprinting;
  • development;
  • epigenetics;
  • chromosome abnormalities;
  • cytogenetics