%0 Journal Article
%T A Sri Lankan child with 49,XXXXY syndrome
%A Dissanayake Vajira
%A Bandarage Palinda
%A Pedurupillay Christeen
%A Jayasekara Rohan
%J Indian Journal of Human Genetics
%D 2010
%I Medknow Publications
%X Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis.
%K Ambiguous genitalia
%K sex chromosome aneuploidy
%K XXXXY syndrome
%U http://www.ijhg.com/article.asp?issn=0971-6866;year=2010;volume=16;issue=3;spage=164;epage=165;aulast=Dissanayake