A Sri Lankan child with 49,XXXXY syndrome

Dissanayake, V.H.W.; Giles, V.; Bandarage, P.

dc.contributor.author	Dissanayake, V.H.W.
dc.contributor.author	Giles, V.
dc.contributor.author	Bandarage, P.
dc.date.accessioned	2021-07-29T12:22:32Z
dc.date.available	2021-07-29T12:22:32Z
dc.date.issued	2010
dc.identifier.citation	Dissanayake, V. H., Bandarage, P., Pedurupillay, C. R., & Jayasekara, R. W. (2010). A Sri Lankan child with 49, XXXXY syndrome. Indian journal of human genetics, 16(3).	en_US
dc.identifier.uri	http://archive.cmb.ac.lk:8080/xmlui/handle/70130/5589
dc.description.abstract	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.	en_US
dc.language.iso	en	en_US
dc.publisher	Wolters Kluwer -- Medknow Publications	en_US
dc.subject	Ambiguous genitalia	en_US
dc.subject	XXXXY syndrome	en_US
dc.subject	sex chromosome aneuploidy	en_US
dc.title	A Sri Lankan child with 49,XXXXY syndrome	en_US
dc.type	Article	en_US