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目的探讨染色体异常与生殖异常的关系。方法按常规技术方法制备外周血染色体,并对染色体核型进行分析。结果 287例病例中35例染色体核型异常,异常检出率为12.20%。其中,数目异常者1例;结构异常者20例;染色体多态者14例,分别为遗传咨询者的0.35%、6.97%和4.88%。结论对生育畸形、智力低下、染色体异常儿、死胎死产等不良孕、产史患者进行染色体核型分析具有重要意义。
Objective To investigate the relationship between chromosomal abnormalities and reproductive abnormalities. Methods Peripheral blood chromosomes were prepared by routine techniques and their karyotypes were analyzed. Results Of the 287 cases, 35 cases were abnormal in karyotype and the rate of abnormality was 12.20%. Among them, the number of abnormalities in 1 case; structural abnormalities in 20 cases; chromosome polymorphism in 14 cases, respectively, genetic counseling of 0.35%, 6.97% and 4.88%. Conclusion It is of great significance to carry out karyotypic analysis of chromosomes in maternal and neonatal patients with poor fertility, mental retardation, chromosomal abnormalities and stillbirths.