Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:)

Abstract

In this report we present a 9-year-old boy with mental retardation, behavioural problems and terminal deletion of the short arm of chromosome 8(8pter----8p23.1:). In contrast with previously reported patients with larger terminal and interstitial 8p deletions he did not present major phenotypic abnormalities.