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目的通过来我室进行遗传咨询的患者的外周血进行淋巴细胞染色体核型分析,探讨染色体畸变与自然流产、死胎、智力低下、不孕不育、原发闭经等的关系及大庆地区遗传咨询者染色体疾病的发病率。方法采用外周血淋巴细胞培养,常规G显带进行染色体核型分析。结果在817例受检者中,发现异常核型89例,占受检者10.9%。其中常染色体数目异常25例,占异常核型28.0%,常染色体结构异常19例,占21.3%,性染色体数目异常13例,占14.6%,性染色体结构异常9例,占10.1%,染色体多态性变异23例,占25.8%。结论染色体异常是导致自然流产、死胎、智力低下、不孕不育、原发闭经等的重要原因。大庆地区遗传咨询人群中的染色体病发病率为10.9%,处于国内所见报道地区的中等偏上水平。
Objective To analyze the relationship between chromosomal aberrations and spontaneous abortion, stillbirth, mental retardation, infertility, primary amenorrhea, etc., and genetic counselors in Daqing area by analyzing the peripheral blood of patients with genetic counseling who come to our room for genetic counseling Chromosomal disease incidence. Methods Peripheral blood lymphocytes were cultured and conventional G-banding was performed for karyotype analysis. Results Among 817 subjects, 89 cases were found abnormal, accounting for 10.9% of the subjects. There were 25 cases with abnormal chromosome number, 28 cases with abnormal karyotype, 19 cases with an autosomal abnormality (21.3%), 13 cases with abnormal sex chromosome number (14.6%), 9 cases with sex chromosome abnormality (10.1%), chromosome 23 cases of morphological variation, accounting for 25.8%. Conclusion Chromosomal abnormalities are the major causes of spontaneous abortion, stillbirth, mental retardation, infertility and primary amenorrhea. The incidence of chromosomal diseases in genetic counseling population in Daqing area is 10.9%, which is in the medium upper level reported in the country.