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目的研究咨询者外周血染色体异常情况与临床效应以及明确病因学诊断,对异常染色体患者夫妇采取综合防治措施,防止染色体病患儿及携带者的出生。方法采用外周血淋巴细胞培养、常规制备染色体标本G显带,显微镜下分析。结果在1823例就诊者中检出异常染色体核型121例,异常检出率为6.64%,其中常染色体异常22例,性染色体异常53例。多态性染色体46例,占受检人次的2.52%,检出单个细胞染色体异常核型7例,出现率为0.38%。结论新发现的异常染色体核型5种8例为世界首次报告,它的发现既丰富了人类异常染色体数据库资料,又为基础研究提供材料,为不良生育史的夫妇提供了明确的病因学诊断;对优生优育工作具有重要的意义;有不明原因不良孕产史夫妇的染色体多态性应引起高度重视。
Objective To study the consultant peripheral blood chromosomal abnormalities and clinical effects as well as a clear etiological diagnosis of patients with abnormal chromosomes to take comprehensive prevention and treatment measures to prevent the birth of children with chromosomal diseases and carriers. Methods Peripheral blood lymphocytes were cultured. The G - banding of chromosome specimens was routinely prepared and analyzed under a microscope. Results Of the 1823 cases, 121 cases were found with abnormal karyotype, the rate of anomaly was 6.64%. There were 22 cases of autosomal abnormality and 53 cases of abnormal sex chromosome. 46 cases of polymorphic chromosomes, accounting for 2.52% of the subjects examined, detected a single cell chromosome abnormalities in 7 cases, the incidence was 0.38%. CONCLUSION: The first reported cases of 5 newly diagnosed karyotypes were reported in the world. The findings of this study not only enrich the data of human chromosome abnormalities, but also provide materials for basic research and provide a clear etiological diagnosis for couples with poor birth histories. It has great significance to the work of prenatal and postnatal care. Chromosomal polymorphisms of couples with unexplained maternity history should be given high priority.