Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females 47,XXX instead of 46,XX. It is the most common female chromosomal abnormality, occurring in approximately 1 in 1, female births. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure POF can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders anxiety and depression , and other psychological disorders are also more common than in the general population. The risk of trisomy X increases with advanced maternal age.
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