| 110例遗传咨询儿童染色体核型分析 |
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| 引用本文： | 李忻,张韫,杨鑫,靳耀英,刘轩.110例遗传咨询儿童染色体核型分析[J].中国妇幼保健,2011,26(4):560-562. |
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| 作者姓名： | 李忻 张韫 杨鑫 靳耀英 刘轩 |
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| 作者单位： | 中日友好医院临床医学研究所,北京,100029 |
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| 摘 要： | 目的:探讨110例遗传咨询儿童染色体异常核型的频率和类型。方法:对临床诊断为先天愚型、发育落后、智力低下、先天畸形等儿童进行外周血染色体核型分析。结果:发现染色体异常核型36例,异常检出率为32.73%;其中常染色体异常核型22例,占20.00%,占异常数的61.11%,性染色体异常核型14例,占12.73%,占异常数的38.89%。结论:染色体畸变是引起儿童出生缺陷的重要原因之一,对于临床怀疑为遗传综合征的患儿应做染色体检查。
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| 关 键 词： | 遗传咨询 儿童 染色体异常 |
Analysis on chromosomal karyotype of 110 children receiving genetic counseling |
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| LI Xin,ZHANG Yun,YANG Xin et al.Analysis on chromosomal karyotype of 110 children receiving genetic counseling[J].Maternal and Child Health Care of China,2011,26(4):560-562. |
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| Authors: | LI Xin ZHANG Yun YANG Xin |
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| Institution: | LI Xin,ZHANG Yun,YANG Xin et al.Institute of Clinical Medical Science,China-Japan Friendship Hospital,Beijing 100029,China |
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| Abstract: | Objective:To explore the frequency and type of abnormal chromosomal karyotype of 110 children receiving genetic counseling.Methods:The children diagnosed as mongolism,development retardation,mental retardation and congenital malformations received chromosomal karyotype analysis in peripheral blood.Results:36 children were found with abnormal chromosomal karyotype,the detection rate was 32.73%,including 22 children(61.11%) with abnormal autosome karyotype,accounting for 20.00%;14 children(38.89%) with abnorm... |
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| Keywords: | Genetic counseling Children Chromosomal abnormality |
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