Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.

We report a patient with Prader-Willi syndrome (PWS) and mosaicism for a de novo jumping translocation of distal chromosome 15q, resulting in partial trisomy for 15q24-qter. A maternal uniparental heterodisomy for chromosome 15 was present in all cells, defining the molecular basis for the PWS in th...

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Detalhes bibliográficos
Main Authors: Devriendt, K, Petit, P, Matthijs, G, Vermeesch, J R, Holvoet, M, De Muelenaere, A, Marynen, P, Cassiman, J J, Fryns, J P
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050947/
https://ncbi.nlm.nih.gov/pubmed/9152837
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