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

@article{Bundey1994DuplicationOT,
  title={Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia.},
  author={Sarah Bundey and Claire Hardy and Selwyn A Vickers and Michael W. Kilpatrick and John A Corbett},
  journal={Developmental medicine and child neurology},
  year={1994},
  volume={36 8},
  pages={
          736-42
        }
}
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… CONTINUE READING
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