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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 distribution of chromosomal abnormalities in genetic counseling patients in Wuhan and to guide the clinical diagnosis of genetic diseases. Methods 2257 cases of genetic counseling, using lymphocyte culture, the use of G, C and other banding technology for cytogenetic analysis. Results The detection rate of chromosomal abnormalities in 2257 cases of genetic counseling was 10.46%. Among them, 309 cases with mental retardation were detected in 48 cases with abnormal karyotype, the abnormality rate was 15.53%; 775 cases of abnormal pregnancy 40 cases with abnormal rate of 5.16%; 459 cases of infertile couples, abnormal karyotype detected in 58 cases, the abnormal rate was 12.63%; 134 cases of amenorrhea patients detected abnormal karyotype in 22 cases, the abnormal rate was 16.42%; Among 251 patients with dysplasia, 46 cases of abnormal karyotype were detected, the abnormal rate was 18.33%. Conclusion Chromosomal aberration is an important reason of children with mental retardation, adult infertility, abortion and abnormal sexual characteristics. Genetic counseling and prenatal diagnosis are of great significance in clinical treatment and guidance of prenatal and postnatal care.