48, XXYY

Common Name(s)

48, XXYY

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.  Patients have an essentially normal life expectancy but require regular medical follow-up.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "48, XXYY" for support, advocacy or research.

XXYY Project

The XXYY Project connects parents, medical professionals, and service providers to guide males living with XXYY Syndrome through social, physical and emotional challenges. In support of this mission, we strive to: • Increase understanding of the syndrome for those affected by the condition through ongoing education and group support; • Work with health care professionals to continue ongoing research into the syndrome; and • Raise public awareness and understanding of the syndrome.

Last Updated: 5 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "48, XXYY" for support, advocacy or research.

XXYY Project

The XXYY Project connects parents, medical professionals, and service providers to guide males living with XXYY Syndrome through social, physical and emotional challenges. In support of this mission, we strive to: • Increase understanding of the syndrome for those affected by the condition through ongoing education and group support; • Work with health care professionals to continue ongoing research into the syndrome; and • Raise public awareness and understanding of the syndrome.

http://www.xxyysyndrome.org

Last Updated: 5 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "48, XXYY" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "48, XXYY" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.