DUPLICATION OF THE 15Q11-13 REGION IN A PATIENT WITH AUTISM, EPILEPSYAND ATAXIA

Various developmental abnormalities can give rise to the clinical synd rome of autism, and some are due to chromosomal anomalies. One syndrom e has been identified in which behavioural disorder is associated with the clinical features of epilepsy and ataxia, and with the chromosoma l anomaly of an extra marker chromosome containing a duplication of 15 q11-13. The authors report a boy with autism, epilepsy, ataxia and an interstitial duplication of 15q, in whom molecular analysis reveals du plication of the GABRA5 and GABRB3 genes on the maternally derived chr omosome.