Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

Similar articles

See all similar articles

References

    1. Lancet. 2004 Jul 17-23;364(9430):273-83 - PubMed
    1. J Intellect Disabil Res. 2005 Nov;49(Pt 11):852-7 - PubMed
    1. Am J Med Genet. 1995 Oct 9;60(5):356-63 - PubMed
    1. Indian Pediatr. 1995 Jul;32(7):798-801 - PubMed
    1. Pediatrics. 1970 Apr;45(4):677-86 - PubMed

Publication types

LinkOut - more resources