Trisomy X

Trisomy X is an anomaly of sex chromosomes in the female sex chromosomes.

It is believed that only about 10% of sufferers are diagnosed, as most are symptom-free or mildly compromised.

The characteristic clinical symptoms are hypotonia, clinodactyly, epicanthus and tall growth. Concomitant symptoms include malformations of the kidneys and genitourinary system, cerebral fits and premature menopause.

In childhood, developmental delays in motor skills and language, a heightened risk of learning difficulties, and cognitive deficits can be identified. The patients often suffer from psychological problems such as attention deficits, anxiety, depression and adjustment disorders.

The most common cause of trisomy X is a meiotic chromosomal maldistribution, but in about 20% of the cases, post-zygotic nondisjunction is due.