49, XXXXY

Common Name(s)

49, XXXXY, 49, XXXXY syndrome

49, XXXXY syndrome is a rare chromosome abnormality that only affects males and is caused by three extra copies of the X chromosome. Symptoms of the condition include mild to severe learning difficulty, speech issues, abnormal physical and sexual development which lead to shorter than average height and small genitals, low muscle tone (hypotonia), narrow shoulders and chest, and subtle facial features. Body abnormalities can include a twisted foot at birth (clubfoot), abnormal bones in the forearms that make it difficult to do certain movements, bent fifth fingers, and loose (bendy) joints. Kidney, heart, and, in rare cases, brain abnormalities (defects) may also be present at birth. Some boys with this condition are at an increased risk for respiratory tract infections.

Even though 49, XXXXY syndrome is considered a genetic condition, it is not inherited. It is a random (sporadic) chromosome abnormality that occurs as a result of abnormal chromosome separation in an egg cell from the mother. Normally, a mother’s egg cells divide during a process known as meiosis. During this process, a cell that contains 46 chromosomes (including two X chromosomes) separates into cells that contain 23 chromosomes (each with one X chromosome). However, in rare cases, the X chromosomes do not separate during this process and create egg cells that have four X chromosomes (instead of one X chromosome). When the egg cell that has four X chromosomes is fertilized by the sperm cell that has one Y chromosome, it creates an embryo with four Xs and one Y (49, XXXXY). The condition is usually suspected in a boy with abnormal facial features and learning issues, but the diagnosis is confirmed with a chromosome analysis blood test (karyotype). There is no cure for this condition, but therapies can help with learning difficulties. Additional information is available through support groups.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "49, XXXXY" for support, advocacy or research.

The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

Last Updated: 31 Mar 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "49, XXXXY" for support, advocacy or research.

The Focus Foundation

The Focus Foundation is dedicated to helping children and families affected by X & Y Variations, Dyslexia, and/or Developmental Dyspraxia. The Focus Foundation believes that through increased awareness, early identification and syndrome-specific treatment, children with these conditions can reach their full potential.

http://www.thefocusfoundation.org/

Last Updated: 31 Mar 2015

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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 "49, XXXXY" 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 "49, XXXXY" 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.