Distinct phenotype in maternal uniparental disomy of chromosome 14

Abstract

We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4‐year‐old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short 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.