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47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic. More detailed information about the symptoms, causes, and treatments of 47,XXX syndrome is available below.
See full list of 40 symptoms of 47,XXX syndrome
Read more about complications of 47,XXX syndrome.
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A rare chromosomal aberration characterized by the presence of three X (female) chromosomes. The condition does not exhibit a distinctive phenotype and majority of the affected females are physically and mentally normal. Abnormalities are infrequent and do not occur with any regularity--they include hypertelorism, epicanthal folds, depressed nasal bridge, kyphosis and variable other anomalies. Delay in growth and mental development, when present, is usually mild. Occasionally associated with Prader-Willi syndrome. - (Source - Diseases Database)
47,XXX syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that 47,XXX syndrome, or a subtype of 47,XXX syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list 47,XXX syndrome as a "rare disease".
Source - Orphanet
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