130例遗传咨询者细胞遗传学分析

目的:探讨核型分析对染色体病的诊断价值,及染色体多态变异与异常妊娠及原发不育的关系。方法:对130例遗传咨询者进行常规外周血淋巴细胞培养,并对异常核型及染色体多态变异进行分析。结果:发现异常核型15例,异常核型检出率为11.54%。其中常染色体数目异常9例,结构异常4例,性染色体数目异常2例。发现染色体多态变异8例。结论:染色体异常是自然流产、死胎及儿童智能低下的重要原因,应引起临床医学工作者的高度重视。

CYTOGENETIC ANALYSIS OF 130 CASES OF GENETIC CONSULTERS

Objective: To investigate the diagnostic values of karyotype analysis for chromosome diseases and the relationship between chromosomal polymorphism variation and abnormal pregnancy,primary sterility. Method: The lymphocyte of periphery blood from 130 cases of genetic consulters was routinely collected to be cultured and G-banded chromosomes were analyzed. Results: Abnormal karyotype was found in 15 cases (11.54%). Among them, there were 9 cases of abnormal chromosomal number, 4 cases of abnormal structure aberration and 2 cases of number anomalies of sex chromosome. It showed 8 cases were chromosomal polymorphism variation. Conclusion: Chromosome anomalies are the major causes of natural abortion, stillborn fetus and imbecile as well, which should be more attention by medical workers.