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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
Contents |
Incidence
It affects one in every 18,000-40,000 male births. 2
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 1960.3 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.
See also
References
- ^ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders, 179. ISBN 0-7216-0187-1.
- ^ Tartaglia N, Davis S, Hench A, et al (June 2008). "A new look at XXYY syndrome: medical and psychological features". Am. J. Med. Genet. A 146A (12): 1509–22. doi:. PMID 18481271.
- ^ Muldal S, Ockey CH (August 27, 1960). "The "double male": a new chromosome constitution in Klinefelter's syndrome". Lancet 276 (7147): 492–3. doi:.
External links
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- This page was last modified on 7 October 2008, at 17:43.
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