trisomy X

trisomy X, sex chromosome disorder of human females, in which three X chromosomes are present, rather than the normal pair. Although trisomy X can be inherited, it most often is caused by a random failure in chromosome separation. When the error occurs via nondisjunction—the failure of chromosomes to separate at meiosis—an extra X chromosome is present in all of the female offspring’s cells. If the additional X chromosome results from a random error in cell division early in embryonic development, mosaicism occurs, in which the extra X chromosome is present in only some cells.

Trisomy X is estimated to occur in about 1 in every 1,000 females. Its true prevalence, however, is uncertain, because affected individuals generally show no physical indications, experience puberty, and are usually fertile, causing the condition to go undetected. Symptoms, when they do appear, tend to be subtle, such as tall height (greater than predicted based on parental height), epicanthal folds (folds of skin over the inner corners of the eyes), and poor muscle tone. In more severely affected individuals, symptoms may include developmental delays, cognitive problems, and premature ovarian failure.