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

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

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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Veröffentlicht in:Genes & Genetic Systems 1996, Vol.71(1), pp.31-36
Hauptverfasser: Arrieta, Isabel, Nuñez, Teresa, Gil, Alberto, Flores, Piedad, Nanclares, Guiomar Perez de, Martiñez, Begona
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:1341-7568
1880-5779
DOI:10.1266/ggs.71.31