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Dev Med Child Neurol. 1994 Aug;36(8):736-42.

Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.

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  • 1Clinical Genetics Unit, Birmingham Maternity Hospital, UK.

Abstract

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

PMID:
8050626
[PubMed - indexed for MEDLINE]
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