先天性性腺发育不全征的细胞遗传学分析（附14例报告）

ANALYSIS OF 14 CASES WITH CONGENITAL GONADAL DYSGEBESIS IN CYTOGENETICS

对５０例不孕，月经稀发，闭经患者进行细胞遗传学检查，发现先天性性腺发育不全症１４例占受检人数的２８％。核型三种类型，其中ｘ单体型７例，ｘ嵌合型３例，ｘ结构异常型４例。所有患者均有性腺发育不全这一共同特征。本文对各类型染色体异常与相关临床体征之间的关系进行探讨，将有助于染色体疾病的临床诊断和遗传效应的深入研究。并对月经失调与治疗问题进行讨论。

he patients of infentility,original amenorrhea and amenorrhea in 50 cases were anal-ysed with cytogenetics.There were 14 cases of congenital gonadal dysgenesis,which come to28%of these fifty cases.There were three karyotypts:x chromatids vvere 7 cases.x mo-saices were 3 cases.x abnormal structures were 4 cases.All patients were gonadal dlysgene-sis.This data desided that relationship between abnormal chromosome of all types and clinicfeatures were discussed, which aided the clinic diagnosis of chromosomal diseases and the re-search deeply of chromosomal idiosyncracy.There were discussed treatment of menstrua-tion