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
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container_end_page 36
container_issue 1
container_start_page 31
container_title Genes & Genetic Systems
container_volume 71
creator Arrieta, Isabel
Nuñez, Teresa
Gil, Alberto
Flores, Piedad
Nanclares, Guiomar Perez de
Martiñez, Begona
description 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.
doi_str_mv 10.1266/ggs.71.31
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title A case of Prader-Willi syndrome associated with mosaicism: Cytogenetic and FISH study
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