title: Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY.
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.
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India. venkateshwari@yahoo.com
authors.forename: A
authors.initials: A
authors.lastname: Venkateshwari
authors.forename: A
authors.initials: A
authors.lastname: Srilekha
authors.forename: Ashrafunnisa
authors.initials: A
authors.lastname: Begum
authors.forename: M
authors.initials: M
authors.lastname: Sujatha
authors.forename: P Usha
authors.initials: PU
authors.lastname: Rani
authors.forename: T
authors.initials: T
authors.lastname: Sunitha
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nallari
authors.forename: A
authors.initials: A
authors.lastname: Jyothy
mesh_terms: D000782:Aneuploidy; D002648:Child; D002658:Developmental Disabilities / Q000150:complications; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007713:Klinefelter Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male