Turner syndrome
Background
Turner syndrome: Bonnevie-Ullrich; Gonadal Dysgenesis (XO); MonosomyX; Turner-Ullrich; XO syndrome
Although the features of the syndrome in girls were described earlier, the syndrome is named after Dr Henry Turner who reported a number of girls with the features of the syndrome in a paper of 1938. Turner syndrome is a chromosomal condition affecting 1 in 2,500 girls where the second X chromosome is absent or abnormal. It is one of the most common chromosomal disorders. The diagnosis is confirmed by examination of chromosomes from the blood cells (Karyotype). Sometimes the second X chromosome is missing from, or abnormal in, only some cells in the body, but not all. This is referred to as Turner mosaicism.