武汉地区2257例遗传咨询者外周血淋巴细胞染色体分析

Wuhan areas 2257 cases of peripheral blood chromosome analysis for genetic counseling

目的探讨武汉地区遗传咨询患者中染色体异常分布情况,指导临床对遗传性疾病的诊断。方法对2257例遗传咨询者,采用淋巴细胞培养,应用G、C等显带技术进行细胞遗传学分析。结果 2257例遗传咨询患者染色体异常检出率为10.46%,其中:309例智力低下患者,检出异常核型48例,异常率为15.53%;775例不良孕产史夫妇,共检出异常核型40例,异常率为5.16%;459例不孕不育夫妇,检出异常核型58例,异常率为12.63%;134例闭经患者检出异常核型22例,异常率为16.42%;251例性发育异常患者,检出异常核型46例,异常率为18.33%。结论染色体畸变是儿童智力低下,成人不孕不育、流产,性征异常的一个重要原因,遗传咨询与产前诊断在临床治疗及指导优生优育中意义重大。

Objective： To investigate the distributing status of abnormal karyotype of genetic counseling patients in Wuhan areas, provide information for clinic making diagnoses of hereditary diseases. Methods： 2257 cases of patients collected from genetic counseling,the chromosomes were obtained by culturing of peripheral blood lymphocyte and analyed under microscope after G- banding and C- banding. Results： The chromosomes abnormality rate 10. 46% in 2257 genetic counseling peoples; include 48 abnormal karyotypes in 309 mental retardation,the rate of abmormality was 15. 53%; 40 abnormal karyotypes in 775 adverse pregnancy history couples,the rate of abmormality was 5. 16%; 58 abnormal karyotypes in infertile couples,the rate of abmormality was12. 63%; 22 abnormal karyotypes in 134 amenorrheas,46 abnormal karyotypes in 251 sexual development abnormities,and the rate of abmormality was 16. 42% and 18. 33% respectively. Conclusion： Chromosome abnormalities are a considerable reason for children amentia,sterility and miscarriage in adults,as well as sexual development abnormity. Genetic counseling and prenatal diagnosis is of great significance in the clinical treatment and guidance of prenatal and postnata1 care.