Other Names for this Disease
- 48,XXYY Klinefelter syndrome
- 48,XXYY variant of Klinefelter's syndrome
- XXYY syndrome
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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. Medscape Reference. July 2015; http://emedicine.medscape.com/article/945649-overview.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.