A case of Prader-Willi syndrome associated with mosaicism: Cytogenetic and FISH study.

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  • Arrieta Isabel
    Department of Animal Biology and Genetics, Faculty of Sciences, University of Basque Country
  • Nuñez Teresa
    Department of Animal Biology and Genetics, Faculty of Sciences, University of Basque Country
  • Gil Alberto
    Department of Animal Biology and Genetics, Faculty of Sciences, University of Basque Country
  • Flores Piedad
    Department of Animal Biology and Genetics, Faculty of Sciences, University of Basque Country
  • Nanclares Guiomar Perez de
    Department of Animal Biology and Genetics, Faculty of Sciences, University of Basque Country
  • Martiñez Begona
    Department of Animal Biology and Genetics, Faculty of Sciences, University of Basque Country

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  • case of Prader-Willi syndrome associate

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Abstract

A 15 year-old girl with Prader-Willi syndrome has been studied by cytogenetie and fluorescence "in situ" hibridization analysis, using centromeric probes. These studies have shown that the underlying mechanism could be an only copy of chromosome 15 (maternally derived) in some cells.<br>

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