广州地区176例闭经患者的细胞遗传学分析

目的探讨细胞遗传水平上原发性闭经和继发性闭经患者的发病机理。方法 156例原发性闭经患者,20例继发性闭经患者的外周血进行培养、制片、烘烤、胰酶消化和染色。每例标本观察20个核型,分析3～5个核型。如果遇到嵌合体,观察100例。结果在176例患者中,检测出48例染色体核型异常患者,异常核型率为27.27%,主要为X染色体数目异常和45,XO嵌合体,包括14例45,XO,19例45,XO嵌合体,5例X染色体结构异常,6例46,XY。156例原发性闭经患者中检测出46例异常核型,而在20例继发性闭经患者中检测出2例异常核型。结论染色体异常是引起原发性闭经和继发性闭经的重要原因,对闭经病人进行染色体检测对确定其病因和治疗是必要的。

Cytogenentics Analysis of 176 Primary and Secondary Amenorrhea Patients

Objective：To study the pathological causes of the patients with primary and secondary amenorrhea on a cytogenetics level.Methods：176 patients were selected in the study,156 primary amenorrhea and 20 secondary amenorrhea.Peripheral blood lyphocytes chromosome samples of each patient were collected,according to routine method,after the procedures of incubation,preparation,baking,pancreatin digestion and Giemsa staining.For each case,3～5 karyotypes out of 20 observed cells were analysized under microscope.When mosaic karyotypes were observed,100 karyotypes were observed.Results：48 abnormal chromosome karyotypes were detected in 176 cases,the abnormality detection rate was 27.27%,and it was mainly involved in the numerical abnormality of chromosome X and mosaic of 45,XO,including 14 patients with 45,XO,19 patients with mosaic of 45,XO,5 patients with structural abnormalities of X,6 patients karyotypes were 46,XY.There were 46 patients with abnormal karyotypes among cases with primary amenorrhea,and 2 patients with abnormal sex chromosome among cases with secondary amenorrhea.Conclusions：Chromosome abnormality is an important cause for primary and secondary amenorrhea.For those patients,the chromosome examination is necessary for the therapy and determination of amenorrhea pathogeny.