- XXYY syndrome
48,XXYY syndrome is a
sex chromosome anomaly.It was previously considered to be a variation of
Klinefelter's syndrome . Fact|date=July 2008 It is still considered a part of the syndrome by some definitions.cite book |author=Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. |title=Robbins and Cotran pathologic basis of disease |publisher=Elsevier Saunders |location=St. Louis, Mo |year=2005 |pages=179 |isbn=0-7216-0187-1 |oclc= |doi= |accessdate=]Incidence
It affects one in every 18,000-40,000 male births. cite journal |author=Tartaglia N, Davis S, Hench A, "et al" |title=A new look at XXYY syndrome: medical and psychological features |journal=Am. J. Med. Genet. A |volume=146A |issue=12 |pages=1509–22 |year=2008 |month=June |pmid=18481271 |doi=10.1002/ajmg.a.32366]
Presentation
Common features include tall stature,
gynecomastia , truncal obesity, skin ulcers, and a craniofacial dysmorphism described as a "pugilistic" facial appearance.History
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. cite journal |author=Muldal S, Ockey CH |month=August 27, |year=1960 |title=The "double male": a new chromosome constitution in Klinefelter's syndrome |journal=Lancet |volume=276 |issue=7147 |pages=492–3 |doi=10.1016/S0140-6736(60)91624-X] 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.See also
*
Klinefelter's syndrome
*XYY syndrome References
External links
* [http://www.xxyysyndrome.org/ The XXYY Project]
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