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The Prader-Willi syndrome with a 15/3 translocation.

A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role o...

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Autors principals: Kucerová, M, Straková, M, Polívková, Z
Format: Artigo
Idioma:Inglês
Publicat: 1979
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012701/
https://ncbi.nlm.nih.gov/pubmed/469905
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