北京地区52例女性不孕不育患者染色体核型及临床分析

Clinical analysis of chromosomal abnormality of 52 cases of female patients with infertility

目的对809例女性不孕不育患者进行染色体核型及临床分析,探讨染色体畸变与表型的效应关系,分析女性不孕不育患者染色体异常检出率及异常类型和频率分布。方法外周血淋巴细胞培养,常规染色体G显带400带分析。结果809例女性不孕不育患者中52例存在染色体核型异常,其中常染色体结构异常35例,占67.31%;性染色体数目异常12例,占23.07%;性染色体结构或功能异常5例,占9.62%。52例患者反复自然流产、多次胎停育29例,占55.77%,畸形儿分娩史6例,占11.54%,女性生殖器发育不全17例,占32.69%。其染色体异常涉及3、4、6、7、8、9、10、13、14、15、21、22和X、Y等。结论染色体畸变是不育的重要因素,久治不愈的不孕不育患者应检查染色体以排除染色体畸变的可能。

Objective ： To study the relationship between chromosome aberrances and their phenotype effect by clinical karyotype analysis of 52 cases of female patients with infertility. Methods ： Peripheral blood lymphocyte culture and conventional chromosome analysis by G - band were conducted. Results ： In 52 cases of female patients with chromosome aberrance, abnormal euchromosome structure accounted for 67.31%. The number of sex chromosome abnormalities and abnormal sex chromosome structure accounted for 23.07% and 9. 62%, respectively. Among these cases patients repeatedly spontaneous abortion, fetal death and terata accounted for 55.77% and 11.54%, repeatedly. The number of female apparatus abnormality accounted for 32. 69%. Chromosome karyotype abnormalities were comprised of the 3rd, 4th, 6th, 7th, 8th, 9th, 10th, 13th, 14th, 15th, 21st, 22nd, X and Y Chromosomes among 52 cases. Conclusion： Chromosome aberrance played an important role in female infertility. Chromosome examination should be performed to exclude the possibility of chromosome aberrances in patients with obstinate infertility.