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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 |
Appears in Collections: | Articles (local / International) |
Files in This Item:
File | Description | Size | Format | |
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A Sri Lankan child with 49,XXXXY syndrom.pdf | 112.01 kB | Adobe PDF | View/Open |
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