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Published on: November 6, 2014
Unilateral cleft lip in a boy with Angelman syndrome
O Rösby1, P Strömme, M Sandsmark
1Department of Medical Genetics, Ullevål University Hospital, University of Oslo, Norway.
Journal of Craniofacial Genetics and Developmental Biology
|April 1, 1996
Abstract:
We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with Angelman syndrome. Fluorescent in situ hybridization and DNA analysis showed a deletion of chromosome 15 q11-13 and thus confirmed the diagnosis. In addition, the patient had a unilateral, incomplete cleft lip, a feature which has not previously been reported in Angelman syndrome.
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