Turner综合征(先天性卵巢发育不全)在医学遗传学研究中,已有较明确的认识,但其核型不同,临床表现也有差异。我室在1986年就诊病人的染色体检查中发现一例X染色体短臂完全缺失型Turner综合征,临床少见,现报道如下。 Turner syndrome (congenital ovarian hypoplasia) in the study of medical genetics, have a more clear understanding, but its different karyotype, clinical manifestations are also different. My room in 1986, check the patient’s chromosome examination found a case of X chromosome short arm completely missing Turner syndrome, clinical rare, are reported below.