前已简报我们在研究300例疑有染色体异常患者的细胞遗传学时,发现5例Turner 综合征患者,其中一例染色体核型为45,x/46,xxp~-。至今国内尚未见另有报导,实属罕见。最近我们又复查了该病例,本文将详细分析这一病例,并拟就近年来国外发表有关 X 染色体短臂缺失和 We have previously reported that in our study of cytogenetics in 300 patients with suspected chromosomal abnormalities, we found 5 patients with Turner’s syndrome, one of which had a karyotype of 45, x / 46, xxp ~ -. So far there is no other reports, it is rare. We have recently reviewed the case again, this article will analyze the case in detail, and proposed in recent years abroad about the X chromosome short arm deletion and