北京地区52例女性不孕不育患者染色体核型及临床分析

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。

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

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.