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

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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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Correspondence to A. Venkateshwari.

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Venkateshwari, A., Srilekha, A., Begum, A. et al. Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY. Indian J Pediatr 77, 447–449 (2010).

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