Autor: |
O, Rösby, P, Strömme, M, Sandsmark, K, Ramstad, E, Ormerod, C, Birger van der Hagen, T, Kubota, D H, Ledbetter, K H, Orstavik |
Rok vydání: |
1996 |
Předmět: |
|
Zdroj: |
Journal of craniofacial genetics and developmental biology. 16(2) |
ISSN: |
0270-4145 |
Popis: |
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. |
Databáze: |
OpenAIRE |
Externí odkaz: |
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