A RECOGNIZABLE BEHAVIORAL-PHENOTYPE ASSOCIATED WITH TERMINAL DELETIONS OF THE SHORT ARM OF CHROMOSOME-8

We report the clinical findings in 5 patients with a terminal deletion of the short arm of chromosome 8, Mild developmental delay was consta ntly present, in association with microcephaly in 4 of 5 patients, Fac ial anomalies were mild or absent, A congenital heart defect was prese nt in 3 patients: an atrioventricular septal defect (AVSD) in 2 and an atrial septal defect type II (ASDII) with pulmonary stenosis in one, A highly similar pattern of behavioural difficulties was present in th e 3 older children (8-11 years), with outbursts of aggressiveness and destructive behaviour, Follow-up in one patient showed that at the age of 16 years, these behavioural problems had largely disappeared, This observation suggests that in addition to mental retardation, microcep haly, congenital heart defect (typically AVSD), a terminal deletion of chromosome 8p may be associated with a characteristic behavioural phe notype during childhood. (C) 1997 Wiley-Liss, Inc.