ABSTRACT
The syndrome of webbed neck, cubitus valgus, short stature, and sexual infantilism was described in seven patients by Turner in 1938. Today, this syndrome is associated with his name although in 1930, the German pediatrician Ullrich reported the cardinal features of the syndrome. Parts of the syndrome, particularly dysgenesis of the gonads, had even been noted in the mid-18th century. In 1959, the new technique of chromosome analysis enabled Ford, Polani, Jones, de Almeida, and Briggs to show that a 45,XO Karyotype was the cause of the disorder. Later Fraccaro, Ikkes, Lindsten, and Kaijser (1960) detected that other chromosomal anomalies involving the second X chromosome could be associated with the syndrome. In these cases, there is either 45,X mosaicism or various other abnormalities of the X chromosome pair. The incidence of the syndrome is estimated at 1 per 3,000 female births, with but a small proportion of approximately 5% of those conceived surviving to birth.
