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.
References
Lanfranco F, Kamische A, Zitzmann. Klinefelter’s syndrome. Lancet 2004; 364: 273–283.
Kishore TMT, Nizamie SH, Nizamie A. The behavioural profile of psychiatric disorders in persons with intellectual disability. J Intell Disab Res 1995; 852–857.
Graham JM, Bashir AS, Stark RA, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics 1988; 81: 795–806.
Greenstein RMJ, Harris DJ, Luzatti L, Cann HM. Cytogenetic analysis of a boy with XXXY syndrome-origin of the X chromosome. Pediatrics 1970; 45: 677–686.
Gupte GL, Kotaliwale SV, Mahajan PV, Kher AS, Kanade SP, Bharucha BA. 48 XXXY variant of Klinefelter. Ind Pediatrics 1995; 32: 798–801.
Movva S, Kumar M, Najeeb S, Murthy PS, Sreelatha K, Hasan Q. A novel case of live born with 49, XXXY +10 karyotype. Implications of autosomal trisomies other than 13,18,21. Int J Hum Genet 2005; 5: 179–182.
Dada Rima, Sharma R, Ahmed ME, Rajeev Kumar RS, Sharma NP, Gupta SK et al. Klinefelter Syndrome: Clinical implications of expanding phenotype. Ind J Practicing Doctor 2007; 3: 48–54.
Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 24: 42–44.
Rovet J, Netley C, Bailey J, Keenan M, Stewart D. Intelligence and achievement in children with extra X aneuploidy: a longitudinal perspective. Am J Med Genet 1995; 60: 356–363.
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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). https://doi.org/10.1007/s12098-009-0288-6
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DOI: https://doi.org/10.1007/s12098-009-0288-6