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A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.

A male proband is described who carries a de novo translocation between chromosomes Y and 15 associated with Prader-Willi syndrome. In situ hybridisation and molecular studies were used to show loss of the paternally derived 15q11q13 region in the translocated chromosome. Lack of further symptoms in...

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Détails bibliographiques
Auteurs principaux: Vickers, S, Dahlitz, M, Hardy, C, Kilpatrick, M, Webb, T
Format: Artigo
Langue:Inglês
Publié: 1994
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049927/
https://ncbi.nlm.nih.gov/pubmed/8071975
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