Pierre-Robin sequence and severe mental retardation with chaotic behaviour associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333))

Abstract

In this report we describe a severely mentally retarded male presenting an interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)). He presented a Pierre-Robin sequence at birth, and during childhood increasing behaviour problems were noted.