Journal of Applied Genetics 50(3), 2009, pp. 293-296

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

Z. Powis, R. P. Erickson

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.

Key words: chromosomal mosaicism, hypomelanosis of Ito, maternal uniparental disomy, paternal uniparental disomy, trisomy 20, uniparental disomy 20.

Correspondence: R.P. Erickson, Department of Pediatrics, University of Arizona, 1501 N. Campbell Avenue, P.O. Box 245073, Tucson, AZ 85724-5073, USA; e-mail: erickson@peds.arizona.edu