Abstract

A diagnosis of Turner's Syndrome is given to female patients who have small stature, primary amenorrhoea and a number of other variable stigmata. The ovaries are absent and the genital ducts and external genitalia do not develop spontaneously beyond the pre-pubertal stage. Chromosome analysis shows that the majority have a 45, X karyotype, in which one of the pair of sex chromosomes is missing. Others have a structural abnormality of one of the two X chromosomes resulting in loss of short-arm material.

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