Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was as certained at 24 weeks of gestation because of the discovery of multiple mal formations at ultrasound including hypotelorism, moderate cerebral ventricu lar dilatation and Ebstein anomaly with secondary cardiac failure. Followin g cytogenetic studies and counselling, the pregnancy was terminated and a f etal autopsy performed. The phenotype of this antenatally-diagnosed case is compared with the clinical features of 44 previously reported cases with a n identical deletion of the short arm of chromosome 1p36. Copyright (C) 199 9 John Wiley & Sons, Ltd.