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Case Reports
. 2010 Apr;77(4):447-9.
doi: 10.1007/s12098-009-0288-6. Epub 2010 Jan 20.

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

A Venkateshwari  1 , A Srilekha, Ashrafunnisa Begum, M Sujatha, P Usha Rani, T Sunitha, Pratibha Nallari, A Jyothy
Affiliations
Case Reports

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

A Venkateshwari et al. Indian J Pediatr. 2010 Apr.

Abstract

Klinefelter'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.

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