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Genetic and Rare Diseases Information Center (GARD)

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47 XXX syndrome


Other Names for this Disease

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

Your Question

I was wondering if there is a treatment or if there are any in development. Also, is there still research being done about triple X? Are there any tests that need to be done besides a blood test? Are there any physical or mental characteristics associated with the disorder?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How might 47 XXX syndrome be treated?

There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, and the overall severity of the disorder in the affected individual. Early intervention services are typically recommended for infants and children that are diagnosed with the condition. Specific recommendations include developmental assessment by 4 months of age to evaluate muscle tone and strength; language and speech assessment by 12 months of age; pre-reading assessment during preschool years; and an assessment of additional learning disabilities as well as social and emotional problems. Evidence suggests that children with 47 XXX syndrome are very responsive to early intervention services and treatment. Some services that affected children may take part in include speech therapy, occupational therapy, physical therapy, and developmental therapy and counseling.[1]

It is also recommended that infants and children with 47 XXX syndrome receive kidney and heart evaluations to detect possible abnormalities. Adolescent and adult women who have late periods, menstrual abnormalities, or fertility issues should be evaluated for primary ovarian failure (POF). Additional treatment for this disorder depends on the specific signs and symptoms present in the affected individual.[1]
Last updated: 3/16/2012

Where can I find up-to-date information about possible treatments or research on 47 XXX syndrome?

You can find relevant articles on 47 XXX syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "47 XXX" or "trisomy X" as your search term should help you locate articles. Use the Advanced and/or Limits search features to narrow your search results. Click here to view a search: http://www.ncbi.nlm.nih.gov/PubMed

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Although there may not be any clinical trials listed on 47 XXX syndrome at a particular point in time, this site can be checked often for regular updates. To search for trials, click on the link above and enter "47 XXX" or "trisomy X" as your search term.
Last updated: 3/16/2012

How is 47 XXX syndrome diagnosed?

47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the presence of an extra X chromosome in body cells. 47 XXX syndrome may also be identified before birth (prenatally), based on chromosomal analysis performed on a sample taken during an amniocentesis or chorionic villus sampling (CVS) procedure.[1] However, in these cases, confirmation testing with a test called FISH is recommended in order to evaluate the fetus for mosaicism (when only a percentage of the cells have the extra X chromosome).[2]
Last updated: 3/16/2012

What are the signs and symptoms of 47 XXX syndrome?

Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced.[3] Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical findings can be present in some individuals and may include epicanthal folds, hypertelorism (widely spaced eyes), upslanting palpebral fissures, clinodactyly, overlapping digits (fingers or toes), pes planus (flat foot), and pectus excavatum.[4] The condition 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. Most females with the condition have normal sexual development and are able to conceive children.[5] However, some individuals have been found to have premature ovarian failure, or ovary abnormalities (such as malformed ovaries).[3]
Last updated: 1/8/2011

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