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

Abstract
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.
AuthorsZ Powis, R P Erickson
JournalJournal of applied genetics (J Appl Genet) Vol. 50 Issue 3 Pg. 293-6 ( 2009) ISSN: 1234-1983 [Print] England
PMID19638687 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Chromosomes, Human, Pair 20 (genetics)
  • Humans
  • Karyotyping
  • Male
  • Microsatellite Repeats (genetics)
  • Trisomy (genetics)
  • Uniparental Disomy (genetics)

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