Tetrasomy X

Common Name(s)

Tetrasomy X, 48, XXXX

Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tetrasomy X" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tetrasomy X" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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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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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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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 "Tetrasomy X" returned 4 free, full-text research articles on human participants. First 3 results:

Tetrasomy X in a Child with Upper Limb Deformity.
 

Author(s): Seema Korgaonkar, Babu Rao Vundinti

Journal: Indian Pediatr. 2015 May;52(5):439.

 

Last Updated: 11 Jun 2015

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Multiple origins of X chromosome tetrasomy.
 

Author(s): W P Robinson, F Binkert, A A Schinzel, S Basaran, R Mikelsaar

Journal: J. Med. Genet.. 1994 May;31(5):424-5.

 

Last Updated: 22 Sep 1994

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Parental origin of extra chromosomes in persons with X chromosome tetrasomy.
 

Author(s): D David, R A Marques, M H Carreiro, I Moreira, M G Boavida

Journal: J. Med. Genet.. 1992 Aug;29(8):595-6.

 

Last Updated: 6 Oct 1992

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Reviews from the PubMed Database

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers
 

Status: Recruiting

Condition Summary: XXY (Klinefelter); Sex Chromosome Variation; Sex Chromosome Aneuploidy; XXXY; XXXXXY; XYY (Jacob); XXYY; X (XO, Turner); XXX (Trisomy X, Triple X); XXXX (Tetrasomy X); XXXXX (Pentasomy X)

 

Last Updated: 7 Nov 2017

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