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Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Duplications of the proximal long arm of chromosome 15 have been seen in the Prader-Willi syndrome (PWS), and in subjects without the Prader-Willi phenotype but with other clinical features including short stature, diabetes, anal and jejunal atresia, and acanthosis nigricans. The non-PWS subjects al...

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Autors principals: Clayton-Smith, J, Webb, T, Cheng, X J, Pembrey, M E, Malcolm, S
Format: Artigo
Idioma:Inglês
Publicat: 1993
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016435/
https://ncbi.nlm.nih.gov/pubmed/8326502
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