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Diseases

Genetic and Rare Diseases Information Center (GARD)

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48,XXYY syndrome


Other Names for this Disease
  • 48,XXYY Klinefelter syndrome
  • 48,XXYY variant of Klinefelter's syndrome
  • XXYY syndrome
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Overview


48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual impairment.  Other medical probelms can include congenital heart defects, bone abnormalities, tremor, obesity, type 2 diabetes and/or respiratory problems.[1][2] Patients have an essentially normal life expectancy but require regular medical follow-up.[2]
Last updated: 5/7/2012

References

  1. Chen H.. Klinefelter syndrome. e-medicine Medscape. May 17, 2011; http://emedicine.medscape.com/article/945649-followup#a2650. Accessed 6/23/2011.
  2. Corsini C, Sarda P. 48,XXYY. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=10. Accessed 5/2/2012.
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