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目的探讨唐氏综合征的发病情况、类型及影响因素。方法对疑为21三体的患者进行外周血淋巴细胞常规培养制备染色体,G-显带,并进行染色体核型分析。结果检出唐氏综合征患者共80例,其中单纯型三体患者占92.5%,易位型占3.75%,嵌合型占3.75%。结论 21-三体是导致患者先天智力低下的重要病因,开展染色体检查有助于临床诊断和治疗,产前筛查及产前诊断是预防唐氏综合征患儿出生的有效方法之一。
Objective To investigate the incidence, types and influencing factors of Down Syndrome. Methods Chromosomal and G-banding were performed routinely on peripheral blood lymphocytes in patients with suspected trisomy 21 and chromosome karyotype analysis. Results A total of 80 patients with Down Syndrome were detected, of which 92.5% were simple trisomy, 3.75% were translocation, and 3.75% were chimeric. Conclusion 21-trisomy is an important etiopathogenisis of congenital mental retardation. To carry out chromosomal examination is helpful for clinical diagnosis and treatment. Prenatal screening and prenatal diagnosis are one of the effective ways to prevent the birth of children with Down’s syndrome.