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55例先天愚型患者染色体核型分析
http://www.100md.com 2014年5月21日 《医学信息》 201420
     摘要:目的 收集前来我院就诊的具有生长发育迟滞及特殊面容99例患儿的外周血细胞染色体检查结果,为临床提供诊断依据。方法 外周血淋巴细胞培养、制片、G显带,核型分析。结果 99例患儿共检出异常核型57例,异常率为57.6%,其中检出先天愚型55例,占异常结果的96.5%。结论 先天愚型是导致儿童生长发育迟缓,智力障碍的最主要原因,应加强孕产妇的产前筛查、染色体检查、产前诊断,避免及阻止遗传病患儿的出生。

    关键词:先天愚型;核型分析

    Analysis of 55 Cases of Trisomg 21-Syndrome Patients Karyotype

    BI Jia-xun,LI Wei

    (Clinical Laboratory,Dali People's Hospital,Dali 671000,Yunnan,China)

    Abstract:Objective99 infants of grow delaying or facial deformity in this hospital have been analyzed by peripheral blood cells cultivation ,so as to provide genetic test evidences for clinical diagnosis. MethodsPeripheral blood cells cultivation, medical slice, G banding, resistance type analysis.Results Among the 99 infants, 57 cases have abnormal chromosome, the detection rate is 57.6%. And of the 57 cases, 55 cases are trisomg 21-syndrome, accounting for 96.5%.ConclusionTrisomg 21-syndrome is the main cause of\ children's grow delaying or mental deficiency , special check of the peripheral blood cells chromosome and prenatal diagnosis for pregnant woman are critical methods to reduce the birth of defective babies.Trisomg 21-syndrome, or named inborn slow-witted, is the common and the first diagnosed blood cells chromosome disease for our human beings. In 1866, England doctor Lang-don Down published clinical survey about this disease, then it named Down Syndrome in external, named TangShi Syndrome in internal. In 1959, the franco-doctor Lejeune diagnosed inborn slow-witted patient's cell have another 21 chromosome, then named this disease Trisomg 21-syndrome. ......

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