49,XXXXX, also known as pentasomy X, is a chromosome abnormality where a female has five X chromosomes rather than the normal two. Symptoms may include intellectual disability, short height, low set ears, decreased muscle tone, and developmental delay. Complications may include congenital heart disease. The condition is due to problems during the formation of the reproductive cells in a person's parents. Risk factors include older parents at the time of conception. Diagnosis is suspected based on symptoms and confirmed by chromosomal analysis. Treatment is based on symptoms. The condition is extremely rare with less than 40 reported cases as of 2011. The condition was first described in 1963....
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