| 12p部分三体综合征的临床研究进展 |
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| 引用本文： | 王坤,祝葆华,刘彦慧. 12p部分三体综合征的临床研究进展[J]. 国际遗传学杂志, 2012, 35(5): 300-304. DOI: 10.3760/cma.j.issn.1673-4386.2012.05.011 |
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| 作者姓名： | 王坤 祝葆华 刘彦慧 |
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| 作者单位： | 1.广东医学院第一临床学院,湛江,524023;2.东莞市妇幼保健院产前诊断中心,523001 |
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| 摘 要： | 12号染色体由1 30万个碱基编码的1100多个基因组成,占人类基因组的大约4.5％.12号染色体短臂三体综合征是一种罕见的染色体异常.其表现多具有特殊面容、低耳位、发育迟缓、肌张力低下等畸形.不同的染色体核型其畸变的发生和临床严重程度存在差别.
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| 关 键 词： | 12号染色体短臂 染色体核型 12号短臂三体 |
Overview of the syndrome of 12 chromosomal short arm partial trisomy |
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| WANG Kun , ZHU Bao-hua , LIU Yan-hui. Overview of the syndrome of 12 chromosomal short arm partial trisomy[J]. International JOurnal of Genetics, 2012, 35(5): 300-304. DOI: 10.3760/cma.j.issn.1673-4386.2012.05.011 |
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| Authors: | WANG Kun ZHU Bao-hua LIU Yan-hui |
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| Affiliation: | WANG Kun , ZHU Bao - hua, LIU Yan - hui ( The First Clinical College of Guangdong Medical College, Zhanjiang 524023, China ) |
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| Abstract: | Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5 % of the human genome. The short arm of chromosome 12 trisomy is a rare chromosomal abnormalities Which is performance of the multi-face with a special, low ear position, growth retardation, hypotonia. different occurrence of aberrations of chromosome karyotype and clinical severity and there is a differenee. |
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| Keywords: | Chromosome 12 p Chromosomal karyotype Trisomy 12p |
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