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