Please use this identifier to cite or link to this item: http://archive.cmb.ac.lk:8080/xmlui/handle/70130/5589
Full metadata record
DC FieldValueLanguage
dc.contributor.authorDissanayake, V.H.W.-
dc.contributor.authorGiles, V.-
dc.contributor.authorBandarage, P.-
dc.date.accessioned2021-07-29T12:22:32Z-
dc.date.available2021-07-29T12:22:32Z-
dc.date.issued2010-
dc.identifier.citationDissanayake, 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).en_US
dc.identifier.urihttp://archive.cmb.ac.lk:8080/xmlui/handle/70130/5589-
dc.description.abstractPentasomy 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.isoenen_US
dc.publisherWolters Kluwer -- Medknow Publicationsen_US
dc.subjectAmbiguous genitaliaen_US
dc.subjectXXXXY syndromeen_US
dc.subjectsex chromosome aneuploidyen_US
dc.titleA Sri Lankan child with 49,XXXXY syndromeen_US
dc.typeArticleen_US
Appears in Collections:Articles (local / International)

Files in This Item:
File Description SizeFormat 
A Sri Lankan child with 49,XXXXY syndrom.pdf112.01 kBAdobe PDFView/Open


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