Please use this identifier to cite or link to this item: http://archive.cmb.ac.lk:8080/xmlui/handle/70130/5589
Title: A Sri Lankan child with 49,XXXXY syndrome
Authors: Dissanayake, V.H.W.
Giles, V.
Bandarage, P.
Keywords: Ambiguous genitalia
XXXXY syndrome
sex chromosome aneuploidy
Issue Date: 2010
Publisher: Wolters Kluwer -- Medknow Publications
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).
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.
URI: http://archive.cmb.ac.lk:8080/xmlui/handle/70130/5589
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