Clinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY.

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dc.contributor.authorVenkateshwari, A
dc.contributor.authorSrilekha, A
dc.contributor.authorBegum, Ashrafunnisa
dc.contributor.authorSujatha, M
dc.contributor.authorRani, P Usha
dc.contributor.authorSunitha, T
dc.contributor.authorNallari, Pratibha
dc.contributor.authorJyothy, A
dc.date.accessioned2012-10-29T07:30:04Z
dc.date.available2012-10-29T07:30:04Z
dc.date.issued2010-04
dc.description.abstractKlinefelter’s syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY).Variants of this syndrome with X and Y polygamy are of rare occurrence. Here we describe a rare case of 48, XXXY Klinefelter’s variant from South India with a reported incidence of 1 per 17,000 to 1 per 50,000 male births. The presence of an extra X chromosome/s in these individuals has a great impact on the physical and cognitive functions, which could be attributed to gene dosage effects and genes involved in neurogenic development.en_US
dc.identifier.citationVenkateshwari A, Srilekha A, Begum Ashrafunnisa, Sujatha M, Rani P Usha, Sunitha T, Nallari Pratibha, Jyothy A. Clinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY. Indian Journal of Pediatrics. 2010 Apr; 77(4): 447-449.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/142557
dc.language.isoenen_US
dc.source.urihttps://medind.nic.in/icb/t10/i4/icbt10i4p447.pdfen_US
dc.subjectKlinefelteren_US
dc.subjectMosaicismen_US
dc.subjectKaryotypeen_US
dc.subjectFISHen_US
dc.subjectGene dosage effectsen_US
dc.subject.meshAneuploidy
dc.subject.meshChild
dc.subject.meshDevelopmental Disabilities --complications
dc.subject.meshHumans
dc.subject.meshIn Situ Hybridization, Fluorescence
dc.subject.meshKlinefelter Syndrome --complications
dc.subject.meshKlinefelter Syndrome --diagnosis
dc.subject.meshKlinefelter Syndrome --genetics
dc.subject.meshMale
dc.titleClinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY.en_US
dc.typeArticleen_US
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