1938年Turner氏发现有颈蹼、肘外翻的成年妇女,并且有性发育幼稚。这三个特征,即构成现在的Turner氏综合征。直到1959年Ford等从细胞遗传学方面证实一例14岁女孩,除具有Turner氏综合征的外表外,其染色体缺少一个X染色体,表现为45、XO,这就是XO,Turner氏综合征。以后,又有许多学者从事此方面的工作,先后发现除45、XO(约65%)外约有1/3的病例为其它核型,如45,X/X46,XX/46、XXP—嵌合型等。 1938 Turner’s discovery of webbed, elbow valgus adult women, and sexual development naive. These three features, which constitute the current Turner’s syndrome. Until 1959, Ford and other cytogenetics confirmed a 14-year-old girl, in addition to the appearance of Turner’s syndrome, the chromosome is missing an X chromosome, the performance of 45, XO, which is XO, Turner’s syndrome. Since then, many other scholars have worked in this area and found that in addition to 45, about 1/3 of the XO (about 65%) were found to have other karyotypes, such as 45, X / X46, XX / 46 and XXP Fit and so on.