深圳市宝安区1506例遗传咨询患者外周血淋巴细胞染色体核型异常率及类型分析

Chromosome karyotype abnormality rate and type analysis of 1506 patients with genetic counseling in baoan district

目的了解深圳宝安地区遗传咨询患者外周血淋巴细胞染色体核型异常发生率及异常类型,并探讨染色体异常与生育障碍之间的相关性。方法选取2017年5月~2019年1月期间来深圳宝安福永人民医院就诊的遗传咨询患者1506例,采集患者外周血进行淋巴细胞培养,同时进行G显带核型检测,分析其染色体异常核型发生率及异常类型,并探讨染色体异常与生育障碍疾病发生之间的相关性。结果 1506例遗传咨询患者共检出异常染色体核型149例,异常率为9.89%(149/1506)。常染色体核型异常100例,异常率为67.11%,其中数目异常37例,异常率为24.83%,结构异常63例,异常率为42.28%;性染色体核型异常49例,异常率的32.89%,其中数目异常18例,异常率12.08%,结构异常31例,异常率为20.81%。常染色体核型异常率明显高性染色体核型异常率,差异有统计学意义(χ^2=3.9152,P<0.05),染色体结构异常率为63.09%(94/149),明显高于数目异常率的36.91%,差异有统计学意义(χ^2=4.5029,P<0.05);常染色体数目异常主要见于47,XX/XY,+21,性染色体数目异常主要见于47,XXY;常染色体结构异常主要见于46,XX/XY,inv(9)(p11-12;q12-13),性染色体结构异常主要见于46,X,i(Xq)。结论深圳宝安区遗传咨询患者外周血淋巴细胞染色体核型异常有一定的发生率,染色体核型异常是导致不孕不育、不明原因复发性流产、无精症、缺陷婴儿、不良妊娠、婴儿智力低下及性发育异常等诸多疾病的重要原因之一。

Objective:To investigate the incidence and types of chromosomal karyotype abnormalities in peripheral blood lymphocytes of patients with genetic counseling in Shenzhen Baoan district,and to explore the correlation between chromosomal abnormalities and reproductive disorders. Methods:1506 cases of genetic counseling patients who visited shenzhen baoan fuyong people’s hospital from May 2017 to January 2019 were selected,Peripheral blood of patients was collected for lymphocyte culture,simultaneously G banding karyotype detection,analyzed the incidence of abnormal chromosome karyotype and exception type,and to explore the correlation between chromosome abnormality and reproductive disorders occur. Results:149 cases of abnormal chromosome karyotype were detected in 1506 genetic counseling patients,the abnormal rate was 9.89%(149/1506). There were 100 cases of abnormal autosomal karyotype,the abnormal rate was 67.11%,including 37 cases of abnormal number,the abnormal rate was 24.83%s,and 63 cases of abnormal structure,the abnormal rate was 42.28%. There were 49 cases of sex chromosome karyotype abnormality,the abnormal rate was 32.89%,including 18 cases of abnormal number,the abnormal rate was 12.08% and 31 cases of structural abnormality,the abnormal rate was 20.81%. The abnormal rate of autosomal karyotype was significantly higher than that of sex karyotype(χ^2=3.9152,P<0.05),and the abnormal rate of chromosome structure was 63.09%(94/149),significantly higher than 36.91% of number of abnormalities,The difference was statistically significant(χ^2=4.5029,P<0.05). Abnormal autosomal number was mainly found in 47,XX/XY,+21. Abnormal sex chromosome number was mainly found in 47,XXY. Abnormality of autosomal structure is mainly found in 46,XX/XY,inv(9)(p11-12;q12-13),the structural abnormalities of sex chromosomes are mainly found in 46,X,i(Xq). Conclusion:There is a certain incidence of chromosome karyotype abnormality in peripheral blood lymphocytes of patients with genetic counseling in Shenzhen Baoan district. Chromosome karyotype abnormality is one of the important causes of infertility,unexplained recurrent abortion,Anspermia,defective baby,adverse pregnancy,infant mental retardation and abnormal sexual development.