Turner syndrome

This disorder, also referred to as monosomy X (45X) occurs in individuals that have one X chromosome, no Y chromosome, and are phenotypically female. Although 45X is a frequent chromosomal anomaly, Turner syndrome is rare with a live-birth frequency of 1:3000, (23) as only 1 in 40 affected zygotes develops to term. (24) Affected individuals experience abnormal growth patterns, are short in stature, generally lack prominent female secondary sexual characteristics and are sterile. In some instances of Turner syndrome, there are slight intellectual and developmental disabilities. View testing options