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目的研究临沂地区遗传咨询患者中染色体异常核型的发生率,探讨染色体异常与疾病发生、发展的关系,为优生优育、降低出生缺陷、提高人口素质服务。方法采用外周血淋巴细胞染色体培养技术,行G显带,必要时进行C显带检查,显微镜下进行核型分析。结果检查5828例遗传咨询患者染色体,就诊原因主要为不良孕产史、不孕不育、原发及继发性闭经、智力低下、先天畸形等,共检出异常染色体核型146种类型805例,检出率为13.81%(805/5828)。检出常染色体结构和数目异常616例,占异常核型的76.52%(616/805),性染色体结构和数目异常189例,占异常核型的23.48%(189/805)。异常的染色体涉及所有24条染色体。结论染色体异常是导致不良孕产史、不孕不育、性发育异常、智力低下等疾病的重要原因之一,对这些病人进行遗传咨询、生育和康复指导非常必要,以达到提高人口素质的目的。
Objective To study the incidence of chromosomal abnormal karyotype in patients with genetic counseling in Linyi and to explore the relationship between chromosomal abnormalities and the occurrence and development of diseases, to provide prenatal and postnatal care, reduce birth defects and improve the quality of population. Methods Peripheral blood lymphocyte chromosome culture technique was used to carry out G-banding, C-banding was performed when necessary and the karyotype was analyzed under the microscope. Results Chromosomes were detected in 5828 cases of genetic counseling patients. The main reasons for the diagnosis were abnormal maternal history, infertility, primary and secondary amenorrhea, mental retardation, congenital malformations and so on. A total of 805 cases of abnormal chromosome karyotype were detected , The detection rate was 13.81% (805/5828). The number and the number of an autosomal abnormalities were detected in 616 cases, accounting for 76.52% (616/805) of anomalous karyotypes and 189 cases of abnormalities in the number and structure of sex chromosomes, accounting for 23.48% (189/805) of abnormal karyotypes. Abnormal chromosomes involve all 24 chromosomes. Conclusion Chromosomal abnormalities are one of the most important causes of adverse maternal history, infertility, sexual dysplasia and mental retardation. It is necessary to guide these patients in their genetic counseling, childbirth and rehabilitation in order to improve the quality of the population .