1938 Turner报告一例具有颈蹼、肘外翻、身材矮小、性发育幼稚的女病人,自此凡具有上述特征的病人即称为 Turner 氏综合征(或卵巢发育不全)。Polani 等(1954)和 Wilkins 等(1954)都分别地证明了大多数 Turner 氏综合征患者的体细胞核内 x 染色质为阴性,并且 Ford等人(1959)首次发现为 xo 染色体组型。国内张淑英、卢惠霖等人曾先后报导 Turner 氏综合征(45,xo;45,xo/46,xx;45,xo/46 Turner’s syndrome (or ovarian hypoplasia) is reported in 1938 Turner as a case of a female patient with a webbed, elbow valgus, short stature, and sexual development. Polani et al. (1954) and Wilkins et al. (1954) respectively demonstrated that most Turner’s syndrome patients have a negative x-chromosome in their somatic nuclei, and for the first time, Ford et al. (1959) found the xo genomics. Domestic Zhang Shuying, Lu Huilin and others have reported Turner’s syndrome (45, xo; 45, xo / 46, xx; 45, xo / 46