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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

Does 47 XXX syndrome affect fertility? What are the chances for a woman with 47 XXX syndrome to have a child with the same condition?

Our Answer

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

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.[1] 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.[2] 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.[3] However, some individuals have been found to have premature ovarian failure, or ovary abnormalities (such as malformed ovaries).[1]
Last updated: 9/24/2014

Is 47 XXX syndrome inherited?

Most cases of 47 XXX 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 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 the early development of an embryo. 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).[3]

Transmission of an abnormal number of X chromosomes from women with 47 XXX syndrome is rare, although it has been reported. Some reports suggest a <5% increased risk for a chromosomally abnormal pregnancy, and other more recent reports suggest that <1% may be more accurate. These risks are separate from the risks of having a chromosomally abnormal pregnancy due to maternal age or any other factors. Furthermore, these risks generally apply only to women with non-mosaic 47 XXX syndrome, as mosaicism may increase the risk of passing on an abnormal number of X chromosomes and potential outcomes.[2] Each individual with 47 XXX syndrome who is interested in learning about their own risks to have a child with a chromosome abnormality or other genetic abnormality should speak with their healthcare provider or a genetics professional.
Last updated: 9/24/2014

How might 47 XXX syndrome affect fertility?

Most females with 47 XXX have normal sexual development and are able to conceive children.[3] However, some individuals have been found to have premature ovarian failure (POF), or ovary abnormalities (such as malformed ovaries).[1] Premature ovarian failure (POF) is a condition in which the ovarian functions of hormone production and oocyte (egg) development become impaired before the typical age for menopause. There are multiple reports of women with the condition found to have POF; the ages have ranged from 19 to 40 years. Studies on the prevalence of POF in women with 47 XXX syndrome have not yet been performed. One study that performed genetic screening on women with POF identified 47 XXX syndrome in 3% of cases.[2]
Last updated: 9/24/2014

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

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.