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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.

Citation

A Venkateshwari, A Srilekha, Ashrafunnisa Begum, M Sujatha, P Usha Rani, T Sunitha, Pratibha Nallari, A Jyothy. Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY. Indian journal of pediatrics. 2010 Apr;77(4):447-9

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PMID: 20091383

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