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目的对657例遗传咨询患者染色体检查结果进行分析。方法抽取抗凝静脉血0.3ml～0.5ml进行培养,常规方法细胞培养、制片、G显带核型分析。结果受检的657例遗传咨询中,检出异常染色体核型47例,异常率为7.1%,其中,性染色体异常19例,占40.4%,常染色体异常28例,占59.4%,染色体数目异常18例,占38.3%,染色体结构异常29例,占61.7%。结论染色体异常核型是导致流产、死胎、畸胎、不孕不育的重要原因之一,染色体异常核型与原发性闭经、无精子症、性发育异常有关。
Objective To analyze the results of chromosome examination in 657 patients with genetic counseling. Methods Anticoagulant venous blood was drawn from 0.3ml to 0.5ml and cultured by conventional methods. Results Among the 657 cases of genetic counseling, 47 cases were found with abnormal chromosome karyotype, the abnormality rate was 7.1%. There were 19 cases of chromosomal abnormalities (40.4%), 28 cases of autosomal abnormalities (59.4%), abnormal chromosomal abnormalities 18 cases, accounting for 38.3%, chromosomal abnormalities in 29 cases, accounting for 61.7%. Conclusions Chromosome abnormal karyotype is one of the important causes of miscarriage, stillbirth, teratology and infertility. Chromosome abnormal karyotype is related to primary amenorrhea, azoospermia and sexual dysplasia.