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目的了解本地区确认的唐氏综合征患儿核型分布情况,探讨唐氏综合征的发病情况及影响因素。方法对疑似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,分析唐氏征患儿的核型分布情况。结果检出唐氏综合征患儿共177例,其中单纯型三体患儿占93.2%,易位型5.7%,嵌合型占1.1%。结论本文中所检测到的21-三体以单纯型占绝大多数,21-三体是导致患者先天智力低下的重要因素,开展染色体检查有助于临床诊断,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 understand the karyotype distribution in children with Down’s syndrome confirmed in this area and to explore the incidence and influencing factors of Down’s syndrome. Methods Chromosomal and G-banding were performed routinely on peripheral blood lymphocytes in patients with suspected 21-trisomy. Karyotype analysis was performed to analyze the karyotype distribution in children with Down’s syndrome. Results A total of 177 children with Down’s syndrome were detected, of which 93.2% were simple trisomy, 5.7% were translocation and 1.1% were chimeric. Conclusion 21-trisomy detected in this article to the vast majority of simple, 21-trisomy is an important factor in patients with congenital mental retardation, to carry out chromosomal examination of clinical diagnosis, prenatal screening and prenatal diagnosis Is one of the effective ways to prevent the birth of children with Down’s syndrome.