1298例遗传咨询者淋巴细胞染色体分析

目的：探讨染色体异常与相关疾病的关系。为遗传咨询者提供优生知识。方法：应用常规外周血淋巴细胞染色体标本制备G显带、C显带标本。结果：1298例遗传咨询者中检出异常核型162例，占12．48％，其中数目异常127例，占9．78％，结构异常30例，占2．3l％，(其中l例经鉴定为世界首报)，嵌合体5例，占0．39％。结论：对相关疾病进行细胞遗传学分析是临床诊断必不可少的一种手段。对于不明原因的反复流产、死胎、畸胎史的患者及智力低下、不育、不孕症和原发闭经患者都应进行染色体检查，从而为遗传咨询以及指导优生优育提供科学的理论依据。

Karyotype Analysis of Lymphocyte of 1298 Genetic Counselees in Ningxia

Objective: To study the correlation between chromosomal abnormalities and related disease, and then to supply the eugenic knowledge to the counselees. Methods: Peripheral blood lymphocyte chromosome specimens were made by routine technique and analyzed on G band or C band. Results: In 1298 genetic counselees , 162 cases chromosomal abnormalities were checked out, 127 of them were numerical abnormalities (9.78%), 30 were structural abnormalities (one abnormality identified as the newest finding globally) (2.31%) and 5 were mosaic (0.30%). Conclusion: Cytogenetic analysis is an important means to diagnose chromosome-related disease in clinic, especially for those who suffer from recurrent abortions, growth or mental retardation and infertility.