|
|
| Line 1: |
Line 1: |
| {{SI}}
| | #REDIRECT [[48, XXYY]] |
| | |
| {{CMG}}
| |
| | |
| {{EH}}
| |
| | |
| ==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]]
| |
| | |
| {{WH}}
| |
| {{WS}}
| |