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

• Authors: Z. Powis , R.P. Erickson
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

CHROMOSOMAL MOSAICISM; DISOMY; HYPOMELANOSIS; TRISOMY 20

Discipline

• GENETICS: GENETICS

• Journal: Journal of Applied Genetics
• Year: 2009
• Volume: 50
• Issue: 3
• Pages: 293-296

Contributors

author

Z. Powis

author

R.P. Erickson

• Document Type: ARTICLE
• Publication order reference: R.P. Erickson, Department of Pediatrics, University of Arizona, 1501 N. Campbell Avenue, P.O. Box 245073, Tucson, AZ 85724-5073, USA