关键词: 核型, 原发性闭经, 综合征, 复杂易位

Abstract: The reason for primary amenorrhea is very complicated. One of the main causes is chromosome anomalies. Karyotype analysis of 131 patients with primary amenorrhea using the G-banding technique revealed that 83 patients (63.36%) have a normal female karyotype, and 48 patients (36.64%) have abnormal karyotypes including three novel abnormal karyotypes [46,X,t(X;1)(q22;p34); 46,X,t(X;5;6)(p11.2;q35;q16); 46,XX,t(4;9)(q21;p22),(6;10)(p25;q25), t(11; 14)(q23; q32)]. In addition, when the clinical features and karyotypes of 33 Turner’s(TS) patients were compared with M.Elsheikh’s data, significant differences were found in the proportion of short stature, webbed neck, low posterior hairline and cubitus valgus, which suggests that there are differences in clinical features of TS patients between westerner and easterner. Karyotype analysis of two patients with X-autosome translocations indicated that Xp11.2 and Xq22 may be associated with primary amenorrhea.