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Genetics Home Reference: your guide to understanding genetic conditions
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Triple X syndrome

Reviewed June 2014

What is triple X syndrome?

Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children.

Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females.

How common is triple X syndrome?

This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day.

What are the genetic changes related to triple X syndrome?

People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).

Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women.

Some females with triple X syndrome have an extra X chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism.

Related Chromosome(s)

Changes involving this chromosome are associated with triple X syndrome.

  • X chromosome

Can triple X syndrome be inherited?

Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells.

46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).

Where can I find information about diagnosis or management of triple X syndrome?

These resources address the diagnosis or management of triple X syndrome and may include treatment providers.

  • Association for X and Y Chromosome Variations (AXYS): Trisomy X Syndrome (http://www.genetic.org/Portals/0/Public/Brochures/KS&A%20brochure%20orange%20XXX%20WEB%20.pdf)
  • Genetic Testing Registry: Trisomy X syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0221033)

You might also find information on the diagnosis or management of triple X syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/triple-x-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/triple-x-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about triple X syndrome?

You may find the following resources about triple X syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for triple X syndrome?

  • triplo X syndrome
  • trisomy X
  • 47,XXX
  • 47,XXX syndrome
  • XXX syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about triple X syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding triple X syndrome?

aneuploidy ; atypical ; cell ; cell division ; chromosome ; disabilities ; egg ; embryonic ; hypotonia ; inherited ; kidney ; mosaicism ; motor ; muscle tone ; nondisjunction ; reproductive cells ; sex chromosomes ; sperm ; stature ; syndrome ; trisomy

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Haverty CE, Lin AE, Simpson E, Spence MA, Martin RA. 47,XXX associated with malformations. Am J Med Genet A. 2004 Feb 15;125A(1):108-11; author reply 112. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14755479?dopt=Abstract)
  • Linden MG, Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110(1):3-10. (http://www.ncbi.nlm.nih.gov/pubmed/12116264?dopt=Abstract)
  • Linden MG, Bender BG. Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110(1):11-8. (http://www.ncbi.nlm.nih.gov/pubmed/12116265?dopt=Abstract)
  • Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010 Mar;18(3):265-71. doi: 10.1038/ejhg.2009.109. Epub 2009 Jul 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19568271?dopt=Abstract)
  • Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20459843?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2014
Published: October 20, 2014