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Diseases

Genetic and Rare Diseases Information Center (GARD)

47 XXX syndrome


Other Names for this Disease
  • Trisomy X
  • Triple X syndrome
  • Triple-X female
  • XXX syndrome
  • Triple-X chromosome syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by 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.[1] Treatment typically focuses on specific symptoms, if present.[2] Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.[1]
Last updated: 3/16/2016

References

  1. Triple X syndrome. Genetics Home Reference. June 2014; http://ghr.nlm.nih.gov/condition/triple-x-syndrome.
  2. Triple X syndrome. Mayo Clinic. http://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/basics/definition/con-20033705?p=1. Accessed 3/16/2016.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 47 XXX syndrome. This website is maintained by the National Library of Medicine.
  • The Mayo Clinic Web site provides further information on 47 XXX syndrome.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 47 XXX syndrome.

In Depth Information

  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 47 XXX syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Trisomy X
  • Triple X syndrome
  • Triple-X female
  • XXX syndrome
  • Triple-X chromosome syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.