Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Eighty seven referrals with Prader-Willi syndrome and 49 with Angelman's syndrome were studied. High resolution cytogenetics was performed on all probands. Molecular studies, performed on the proband and both parents in each case, utilised multiple probes from within and distal to the 15(q11-13...

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Dettagli Bibliografici
Autori principali: Smith, A, Prasad, M, Deng, Z M, Robson, L, Woodage, T, Trent, R J
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1511093/
https://ncbi.nlm.nih.gov/pubmed/7618904
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