CEREBELLAR AND BRAIN-STEM HYPOPLASIA IN A CHILD WITH A PARTIAL MONOSOMY FOR THE SHORT ARM OF CHROMOSOME-5 AND PARTIAL TRISOMY FOR THE SHORTARM OF CHROMOSOME-10

A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm o f chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A maternal uncle had died at the age of 4 years with the same clinical picture. After reviewing the li terature, we conclude that the monosomy 5p is the most likely cause fo r this malformation. We suggest that the possible existence of chromos omal anomalies should always be considered in the differential diagnos is of hypoplasia of the cerebellum and/or brainstem.