Please use this identifier to cite or link to this item: http://archive.cmb.ac.lk:8080/xmlui/handle/70130/2001
Title: A Sri Lankan child with 49,XXXXY syndrome
Authors: Dissanayake, V.H.W.
Giles, V.
Bandarage, P.
Pedurupillay, C.R.J.
Jayasekara, R.W.
Issue Date: 2010
Citation: Indian Journal of Human Genetics Volume 16, Issue 3, September 2010, Pages 164-165
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/70130/2001
Appears in Collections:Department of Anatomy

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