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

Isabel Arrieta; Teresa Nuñez; Alberto Gil; Piedad Flores; Guiomar Perez de Nanclares; Begona Martiñez

doi:10.1266/ggs.71.31

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

Isabel Arrieta, Teresa Nuñez, Alberto Gil, Piedad Flores, Guiomar Perez de Nanclares, Begona Martiñez

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JOURNAL FREE ACCESS

1996 Volume 71 Issue 1 Pages 31-36

DOI https://doi.org/10.1266/ggs.71.31

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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.

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