48,XXYY syndrome
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48,XXYY syndrome is a sex chromosome anomaly. It affects one in every 17,000 male births. It was previously considered to be a variation of Klinefelter's syndrome. Common features include tall stature, gynecomastia, truncal obesity, skin ulcers, and a craniofacial dysmorphism described as a "pugilistic" facial appearance.The first published report of a boy with a 48,XXYY karyotype was by Sylfest Muldal and Charles H. Ockey in Manchester, England in 1960. It was found in a 15-year-old mentally challenged boy who had signs of Klinefelter syndrome.
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