XXYY syndrome: Difference between revisions

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#REDIRECT [[48, XXYY]]
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==Overview==
'''48,XXYY syndrome''' is a [[sex chromosome]] anomaly.
 
It was previously considered to be a variation of [[Klinefelter's syndrome]].  It is still considered a part of the syndrome by some definitions.<ref name="isbn0-7216-0187-1">{{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 |isbn=0-7216-0187-1 |oclc= |doi= |accessdate= |page=179}}</ref>
 
==Incidence==
It affects one in every 18,000-40,000 male births. <ref name="pmid18481271">{{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}}</ref>
 
==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.<!--
  --><ref name="muldal 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=[[The Lancet|Lancet]] |volume=276 |issue=7147 |pages=492–3 |doi=10.1016/S0140-6736(60)91624-X}}</ref>
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==
{{reflist}}
 
==External links==
*[http://www.xxyysyndrome.org/ The XXYY Project]
 
{{Chromosomal abnormalities}}
{{SIB}}
 
[[Category:Genetic disorders]]
[[Category:Genetics]]
 
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{{WS}}

Latest revision as of 14:02, 24 June 2010

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