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Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

机译：多重连接依赖探针扩增和阵列比较基因组杂交技术分析10例中国狼-Hirschhorn综合征患者的基因型和表型

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摘要

Background:Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH).

机译：背景：Wolf-Hirschhorn综合征（WHS）是一种连续的基因综合征，通常是由4号染色体短臂末端的缺失引起的。但是，关于中国WHS患者特征的报道很少。这项研究的目的是结合多重连接依赖探针扩增（MLPA）和阵列比较基因组杂交（阵列CGH）来表征中国WHS患者的临床和分子细胞遗传学特征。

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期刊名称 Chinese Medical Journal
作者
Wen-Xu Yang; Hong Pan; Lin Li; Hai-Rong Wu; Song-Tao Wang; Xin-Hua Bao; Yu-Wu Jiang; Yu Qi;
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作者单位

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年(卷),期 2016(129),6
年度 2016
页码 672–678
总页数 7
原文格式 PDF
正文语种
中图分类基础医学;
关键词
Array Comparative Genomic Hybridization Multiplex Ligation-dependent Probe Amplification Wolf-Hirschhorn Syndrome;

机译：阵列比较基因组杂交;多重连接依赖性探针扩增;Wolf-Hirschhorn综合征;

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专利

1. Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization [J] . Wen-Xu Yang, Hong Pan, Lin Li, 中华医学杂志（英文版） . 2016,第006期

机译：多重连接依赖探针扩增和阵列比较基因组杂交技术分析10例中国狼-Hirschhorn综合征患者的基因型和表型
2. Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome [J] . Yang Wen-Xu, Pan Hong, Wang Song-Tao, Taiwanese journal of obstetrics and gynecology . 2016,第1期

机译：多重连接依赖探针扩增和阵列比较基因组杂交技术检测来自沃尔夫·赫希霍恩综合征家庭的胎儿中2p25.3微重复的4p16.3重复缺失
3. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities [J] . Zhiyong Xu, Qian Geng, Fuwei Luo, Molecular cytogenetics . 2014,第1期

机译：多重结扎依赖性探针扩增和阵列对比较基因组杂交分析进行细胞源异常的产前诊断
4. DYE-FREE DETECTION OF MULTIPLE GENE EXPRESSION BY SEQUENCE-TAGGED MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION COUPLED WITH PYROSEQUENCING FOR DIAGNOSIS OF COLORECTAL CANCER [C] . Huang Huan, Qi Zongtai, Deng Lili, The 6'th International Forum on Post-genome Technologies(6'IFPT)（第六届国际后基因组生命科学技术学术论坛） . 2009

机译：测序标记的依赖于多联结的探针扩增与热测序联用的无染料检测多基因表达，用于大肠癌的诊断
5. Detection of genomic deletions by single-nucleotide polymorphism array comparative genomic hybridization. [D] . Stanczak, Krzysztof M. 2007

机译：通过单核苷酸多态性阵列比较基因组杂交检测基因组缺失。
6. Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities [O] . Zhiyong Xu, Qian Geng, Fuwei Luo, 2014

机译：多重结扎依赖性探针扩增和阵列比较基因组杂交分析用于产前诊断细胞基因组异常
7. Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization [O] . Wen-Xu Yang, Hong Pan, Lin Li, 2016

机译：多重连接依赖探针扩增和阵列比较基因组杂交分析中国10例Wolf-Hirschhorn综合征患者的基因型和表型

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

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