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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]
References
- Chen H.. Klinefelter syndrome. e-medicine Medscape. http://emedicine.medscape.com/article/945649-followup#a2650. Accessed June 23, 2011.
- Corsini C, Sarda P. 48,XXYY. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=10. Accessed May 2, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on 48,XXYY syndrome. Click on the link to go to GHR and review the information.
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