Turner’s syndrome

A chromosomal disorder with 45 chromosomes (often with non-disjunction), including only a single X chromosome in some or all cells of a female.  Girls with the syndrome usually have short stature, webbing of the skin of the neck, absent or retarded development of secondary sexual characteristics at puberty, absence of menstruation, narrowing of the aorta, bicuspid aortic valve, and abnormalities of the eyes and bones.  IQ is generally normal although some children have learning difficulties, especially involving spatial abilities.  The syndrome was first described in 1938 by Henry H. Turner (1892-1970).

See Down’s syndrome, Haploinsufficiency, Mosaicism, Non-dysjunction, Prosopagnosia, Williams syndrome.