287例唐氏综合征患儿细胞及分子遗传学分析  

Cytogenetic and molecular genetic analysis of Down's Syndrome-287 cases

作　　者：宋萃[1] 朱岷[1] 包黎明[2] 邹琳[2] 

机构地区：[1]重庆医科大学附属儿童医院特需病房,重庆400014 [2]重庆医科大学附属儿童医院临床分子医学中心,重庆400014

出　　处：《重庆医科大学学报》2010年第4期602-604,共3页Journal of Chongqing Medical University

基　　金：重庆市科委自然科学基金计划资助项目(编号:CSTC;2008BB5231);重庆市卫生局医学科学技术研究项目(编号:2008-2-161)

摘　　要：目的:了解我院确诊的唐氏综合征(Down’s syndrome,DS)患儿核型分布情况;比较荧光原位杂交技术(Fluorescence in situ hybridization,FISH)较常规G显带染色体核型分析技术在确诊并检出嵌合型DS患儿异常核型方面的优势。方法:采集疑诊为DS患儿的血液进行常规G显带染色体核型分析,描述DS患儿核型分布情况;从经常规G显带染色体核型分析确诊为嵌合型DS的患儿中随机抽取5名进行FISH分析,对比2种方法检出异常核型百分比的差异。结果:本文检出的DS患者共287例,其中单纯型达91.29%,占DS患者中的绝大多数,易位型DS患者中,D/G易位11例,占73.33%,G/G易位4例,占26.67%。本文易位型DS患者中有1例为D/G易位嵌合型,以往文献罕见报道;常规G显带染色体核型分析确诊为嵌合型DS的患儿经FISH分析全部为嵌合型,2种方法检出异常核型的比例无统计学差异。结论:本文所收集的DS患儿核型以单纯型占绝大多数,易位型患儿中以D/G易位多见。常规染色体核型分析技术能准确诊断DS,但对于3倍体细胞所占比例较少,临床表现较轻的嵌合型DS患儿建议采用FISH计算异常细胞百分率。Objective：To better understand the karyotype distribution ofthe patients with Down＇s syndrome（DS）who have been finally diagnosed in our hospital.To compare the strengths of G-banding karyotype analysis and FISH（Fluorescence In Situ Hybridization, FISH）in diagnosing the DS patients with the Chromosome mosaicism and Calculating the percentage of abnormal karyotypes.Methods：Blood of the patients who were likely to suffer from DS was selected for G-banding karyotype analysis to describe the karyotype distribution.5 of the finally diagnosed patients with the chromosome mosaicism were randomly selected for FISH to compare the percentage of abnormal karyotypes of the two methods.Results：287 DS patients were diagnosed,91.29%of whom had the simple karyotype.Among the patients with the translocation karyotype, 11 D/G translocation karyotype were detected,accounting for 73.33%,while 4 G/G translocation karyotype were diagnosed, constituting 26.67%.One patient with both of the translocation karyotype and the mosaicism karyotype was detected in our research,which was uncommon in recent report.The results of FISH and G-banding karyotype analysis were consistent.There was no significant difference of the abnormal karyotype rates for DS patients with the chromosome mosaicism by G-banding karyotype analysis and FISH.Conclusion：The simple karyotype is the main karyotype of the DS patients in our research.Among the translocation karyotype,the D/G kind is common.DS patients can be diagnosed efficiently by G-banding karyotype analysis,but we still suggest to use FISH to get the proportion of the abnormal cell for the patients who have less triploid cell and slighter clinical manifestation.

关 键 词：唐氏综合征 染色体核型分析 荧光原位杂交 

分 类 号：R394.2[医药卫生—医学遗传学]