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J Med Genet. Although major medical problems are not present in most cases, other medical problems may be associated with trisomy X. Similar to other trisomies, trisomy X has been shown to have a statistically significant correlation with advancing maternal age, as the likelihood of nondisjunction events during meiosis increases with increasing maternal age. While there is some microarray evidence of overexpression of X-chromosome genes in cells lines with supernumerary X chromosomes [ 54 ], the specific genes involved in the phenotype of trisomy X and other sex chromosome aneuploidies have not been identified. Since the initial description, only several hundred cases have been described, identifying a variety of associated developmental, psychological, and medical features. Genetic counseling for adult patients should additionally address potential reproductive issues, specifically POF and the risk of transmission. Additional research on the pathophysiology and genetic mechanisms involved in the associated medical problems such as seizures and POF is needed.

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