DISTINCT PHENOTYPE IN MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-14

We report on the occurrence of maternal uniparental disomy for chromos ome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian trans location, 45,XX,t (13q,14q). The child has arrested hydrocephalus, sho rt stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some common distinct traits which suggest a mUPD14 syndrome. (C) 1994 Wiley-Liss, Inc.