48,XXYY syndrome
Encyclopedia : 4 : 48 : 48X : 48,XXYY syndrome
48,XXYY syndrome is a sex chromosome anomaly. It affects one in every 17,000 boys who are born. 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 (Muldal & Ockey 1960) 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 retarded boy who had signs of Klinefelter syndrome.
See also
Reference
- Muldal S, Ockey CH (1960). The "double male": a new chromosome constitution in Klinefelter's syndrome. Lancet Aug 27; 2:492-3.
External links
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