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Genetic and Rare Diseases Information Center (GARD)

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Turner syndrome


Other Names for this Disease
  • 45, X Syndrome
  • Bonnevie-Ulrich syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
  • Schereshevkii Turner Syndrome
More Names
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Overview


Turner syndrome is a chromosomal disorder that usually affects development in females.[1] Symptoms differ among individuals, but may include shortened stature, infertility, extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems.[2] Females without Turner syndrome have 2 full X chromosomes in each of their cells. An individual with Turner syndrome is missing all or part of one X chromosome. Although it is genetic, it is typically not inherited. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome become pregnant.[3]
Last updated: 6/18/2012

References

  1. Learning About Turner Syndrome. National Human Genome Research Institute. June 28, 2010; http://www.genome.gov/19519119. Accessed 12/14/2010.
  2. Turner syndrome. Genetics Home Reference. September 2005; http://ghr.nlm.nih.gov/condition=turnersyndrome. Accessed 4/7/2008.
  3. Turner syndrome. MedlinePlus. December 4, 2010; http://www.nlm.nih.gov/medlineplus/turnersyndrome.html. Accessed 12/14/2010.
Your Questions Answered
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Basic Information

In Depth Information

  • 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 Turner syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles