Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.

A 3.3 year old girl with Prader-Willi syndrome (PWS) and mosaicism for two aneuploidies, 47,XXX and 47,XX,+15, is presented. The triplo-X cell line was found in white blood cells and fibroblasts, the trisomy 15 cell line in 50% of the fibroblasts. Using methylation studies of the PWS critical region...

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Bibliografiska uppgifter
Huvudupphovsmän: Devriendt, K, Matthijs, G, Claes, S, Legius, E, Proesmans, W, Cassiman, J J, Fryns, J P
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1997
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050920/
https://ncbi.nlm.nih.gov/pubmed/9138157
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