Clinical and behavioural profile of a rare variant of klinefelter syndrome-48, XXXY.
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Date
2010-04
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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.
Description
Keywords
Klinefelter, Mosaicism, Karyotype, FISH, Gene dosage effects
Citation
Venkateshwari 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.