62例闭经病人的细胞遗传学分析

Cytogenetic Analysis of 62 Cases with Amenorrhea

本文将1985年7月至1991年4月到我室进行染色体检查的62例闭经患者的核型及病因进行了细胞遗传学分析。发现了15例异常核型(占受检人数的24.2％),包括:45,XO(2例);45,XO/46,XX(3例);45,XO/46,XX/47,XXX(1例);45,XO/46,X,i(Xq)和46,X,i(Xq)(各1例);46,X,del(X)(p21)(1例);46,X,psu,dic(X)(1例);46,XY(2例);46,XX,2p^-(1例);45,XX,rob(13;15)(1例);46,XX,22p^+(1例)。其中有12例涉及到性染色体数目和结构异常,3例为常染色体结构异常。并从闭经患者检查染色体的意义、Turner's综合征的细胞遗传学病因、核型46,XY的闭经患者的表型分析及常染色体畸变与闭经的关系等方面加以讨论。

In this paper, the etiology of 62 cases of amenorrhea were studied by cytogenetic technics and abnormal karyotypes were found in 15 cases(24.2％ cases analysed), including 45, XO(2 cases); 45, XO/46, XX(3 cases); 45, XO/ 46XX/47, XXX(1 case); 45, XO/46, X,i(Xq) (1 case); 46, X, i(Xq)(1 case); 46, X, dei(X) (p21)(1 case); 46, X, psu, dic(X) (1 case); 46 XY (2 cases); 46, XX, 2p- (1 case); 45, XX, rob (13; 15)(1 case); 46, XX, 22p+(1 case). In these abnormal cases, twelve are due to the quantitative and the structural aberration of sex chromsome and three due to the structural aberration of autisome. The cytogenetic mechanism of the patients with amenorrhea and the phenotypic analysis of the patients with sex differentiation of 46, XY karyotype were also discussed.