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48,XXYY syndrome is a sex chromosome anomaly. It was previously considered to be a variation of Klinefelter’s syndrome.[citation needed] It is still considered a part of the syndrome by some definitions.[1]
It affects one in every 18,000-40,000 male births. [2] Due to its rarity, it is barely understood.
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.[3] It was found in a 15-year-old mentally challenged boy who had signs of Klinefelter syndrome; eventually, it appeared that he didn’t have the Klinefelter Syndrome but, as shown above, the XXYY syndrome.
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