UNIPARENTAL DISOMY IN CONGENITAL DISORDERS - A PROSPECTIVE-STUDY

Whole chromosome uniparental disomy (UPD) for several different chromo somes has been described in individuals with phenotypes that encompass a broad range of abnormalities. We prospectively searched for UPD in 25 cytogenetically normal individuals who had one or more of the follo wing features: nonsyndromic multiple congenital anomalies, short statu re, mental retardation, or dysmorphic findings. Using highly polymorph ic microsatellite repeats, biparental inheritance of at least one locu s on every chromosome was found in every individual and uniparental in heritance was not detected at any locus. If UPD does exist in this cli nical setting, its frequency is less than 13.7% (95% confidence interv al). Our data indicate that additional studies will be required to det ermine the true incidence of UPD in this population. (C) 1995 Wiley-Li ss, Inc.