146例染色体异常核型临床分析

目的:对146例染色体异常核型进行临床分析,探讨各类异常染色体畸变与其表型效应的关系。方法:外周血淋巴细胞培养,染色体常规G显带分析。结果:146例外周血染色体异常核型中常染色体数目异常占4.8％(7/146);常染色体结构异常占29.5％(43/146);性染色体数目异常占54.1％(79/146);性染色体结构异常占8.9％(13/146);嵌合型占3.4％(5/146)。染色体异常患者中智力低下4.8％(7/146);反复自发流产22.6％(33/146);生育死胎、畸胎6.1％(9/146);男性不育症57.5％(84/146);闭经6.8％(1/146);原因不明性不孕2.7％(4/146)。146例异常核型涉及除19、20号染色体外其他染色体。结论:对久治不愈的不孕不育,反复自发流产、死胎、畸胎和闭经等患者应进行染色体检查,以排除染色体畸变的可能。

Clinic Study on Chromosomes Aberrance from 146 Cases

Objective: To study the relationship between various kinds of chromosomes aberrance from 146 cases and its phenotype effect. Methods: Peripheral blood lymphocyte culture and chromosomes conventional G - band analysis were conducted. Results: In 146 cases of chromosomes aberrance,the rate of abnormal eu-chromosome number and abnormal euchromosome structure was 4. 8% (7/146) and 29. 5% (43/146). The rate of abnormal sex chromosome number and abnormal sex chromosome structure was 54. 1% (79/146) and 8.9% (13/146. The chimera occupied 3.4% (5/146). There were 4. 8% (7/146) patients with mental retardation, 22. 6% (33/146)ones with spontaneous abortion, 6. 1% ( 10/146) ones which had fetal death or fetus anomalies, 57. 5% (84/146)ones with male infertility, 6.8% (10/146) ones with amenorrhea and 2. 7% (4/146) ones with unclear causal infertility. Conclusions: These patients with infertility or spontaneous abortion or amenorrhea, which had fetal death or fetus anomalies should be examined for their chromosomes in order to eliminate the possibility of chromosomes aberrance.