Prader–Willi syndrome and polygonosomal abnormalities in males:about a Prader–Willi/47,XYY patient

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• 作者：Odent ; Sylvie ; Taque ; Sophie ; Lucas ; Josette ; Le Mee ; Franceza ; Le Marec ; Bernard
• 关键词：Prader&ndash ; Willi syndrome ; Klinefelter syndrome ; 47 ; XYY
• 刊名：Annales de Genetique
• 出版年：2001
• 出版时间：January - March, 2001
• 年：2001
• 卷：44
• 期：1
• 页码：1-3
• 全文大小：54.0 K

文摘

We herein report a male patient known as having a XYY karyotype. At the age of 26 years a Prader–Willi syndrome (PWS) was diagnosed. Before that time the whole symptomatology was ascribed to the XYY syndrome. This is the first reported association of PWS and polygonosomal abnormality in a male adult (whose height is above average).