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 |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.