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Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Dissanayake, V.H.W. | - |
dc.contributor.author | Giles, V. | - |
dc.contributor.author | Bandarage, P. | - |
dc.contributor.author | Pedurupillay, C.R.J. | - |
dc.contributor.author | Jayasekara, R.W. | - |
dc.date.accessioned | 2012-02-29T05:55:34Z | - |
dc.date.available | 2012-02-29T05:55:34Z | - |
dc.date.issued | 2010 | - |
dc.identifier.citation | Indian Journal of Human Genetics Volume 16, Issue 3, September 2010, Pages 164-165 | en_US |
dc.identifier.uri | http://archive.cmb.ac.lk:8080/xmlui/handle/70130/2001 | - |
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.title | A Sri Lankan child with 49,XXXXY syndrome | en_US |
dc.type | Journal abstract | en_US |
Appears in Collections: | Department of Anatomy |
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