Turner’s syndrome is the most common chromosomal abnormality in females, affecting approximately 1/2000 live female births. It is the result of complete or partial X chromosomal monosomy (either absent or structurally abnormal) in a phenotypic female.

The characteristic clinical features are short stature and gonadal dysgenesis, although multiple organ systems may be involved. Turner’s syndrome  is associated with a three-fold increase in overall mortality and a reduced life expectancy. Affected women are at risk of multiple medical problems including cardiovascular disease and osteoporosis.

(Reviewed in Saenger et al., 2001; Elsheikh et al., 2002; Bondy et al., 2007)

Content created June 04, 2007