Journal of Applied Genetics

, Volume 50, Issue 3, pp 293–296 | Cite as

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

  • Z. Powis
  • R. P. Erickson
Case Report


Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.


chromosomal mosaicism hypomelanosis of Ito maternal uniparental disomy paternal uniparental disomy trisomy 20 uniparental disomy 20 


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Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2009

Authors and Affiliations

  1. 1.Section of Medical and Molecular Genetics, Department of PediatricsUniversity of ArizonaTucsonUSA
  2. 2.Department of Molecular and Cellular BiologyUniversity of ArizonaTucsonUSA

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