Skip to main content
Log in

Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY

  • Clinical Brief
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Lanfranco F, Kamische A, Zitzmann. Klinefelter’s syndrome. Lancet 2004; 364: 273–283.

    Article  CAS  PubMed  Google Scholar 

  2. Kishore TMT, Nizamie SH, Nizamie A. The behavioural profile of psychiatric disorders in persons with intellectual disability. J Intell Disab Res 1995; 852–857.

  3. 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.

    PubMed  Google Scholar 

  4. 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.

    CAS  PubMed  Google Scholar 

  5. http://klinefeltersyndrome.org/48variant.html

  6. Gupte GL, Kotaliwale SV, Mahajan PV, Kher AS, Kanade SP, Bharucha BA. 48 XXXY variant of Klinefelter. Ind Pediatrics 1995; 32: 798–801.

    CAS  Google Scholar 

  7. 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.

    CAS  Google Scholar 

  8. 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.

    Google Scholar 

  9. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 24: 42–44.

    Article  Google Scholar 

  10. 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.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to A. Venkateshwari.

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12098-009-0288-6

Key words

Navigation