1129例遗传咨询者细胞遗传学研究

Cytogenetic Study on 1129 genetic counselees

目的 探讨细胞遗传学检查与优生的关系及临床意义。方法 对遗传咨询者外周血淋巴细胞行染色体常规G显带核型分析。结果 在 112 9例就诊患者中 ,共检出核型异常者 5 9例 ,其中妊娠胎儿丢失 (流产、死胎、死产 )核型异常者 2 4例 ,曾生育畸形儿、智力低下儿的患者中核型异常者 5例 ,不孕不育者有 17例 ,性发育异常者中有 7例 ,原发 /继发闭经患者中有 5例异常核型。结论 染色体异常是影响人口素质的原因之一 ,对遗传咨询者进行外周血淋巴细胞染色体检查非常必要 。

Objective: To investigate the relationship between eugenics and cytogenetics of genetic counselees. Methods Peripheral blood lymphocytic culture and microscopy were adopted to detect the chromosome karyotype. Results There were 1129 genetic counselees all together, and 58 cases of them had abnormal karyotypes. Who had the history of abortion, intrauterine death and stillbirth, 25 cases with chromosome abnormalities of karyotype were found ; 5 cases of those who had a monster or an ament had abnormal karyotypes; 17 cases of people with infertility ,7 cases of sexual dysplasia and 5 cases of primary / secondary amenorrhea had chromosome abnormalities; accounting for 5.14%(58/1129). Conclusion Chromosome abnormalities may be one of the important factors affecting the quality of population, cytogenetics detection is necessary for genetic counselees, it can be helpful for prenatal diagnosis and eugenic.