Other Names for this Disease
- 48,XXYY Klinefelter syndrome
- 48,XXYY variant of Klinefelter's syndrome
- XXYY syndrome
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. Patients have an essentially normal life expectancy but require regular medical follow-up.48,XXYY syndrome is a
Last updated: 5/7/2012
- Chen H.. Klinefelter syndrome. e-medicine Medscape. May 17, 2011; http://emedicine.medscape.com/article/945649-followup#a2650. Accessed 6/23/2011.
- 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.
- Genetics Home Reference (GHR) contains information on 48,XXYY syndrome. This website is maintained by the National Library of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 48,XXYY syndrome. Click on the link to view a sample search on this topic.