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

Yang Wen-Xu; Pan Hong; Wang Song-Tao; Li Lin; Wu Hai-Rong; Qi Yu

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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

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

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Objective: We present prenatal diagnosis, genetic counseling, and molecular cytogenetic features of familial recurrence of Wolf-Hirschhorn syndrome (WHS).

机译：目的：我们介绍沃尔夫-希尔希霍恩综合征（WHS）家族性复发的产前诊断，遗传咨询和分子细胞遗传学特征。

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《Taiwanese journal of obstetrics and gynecology》 |2016年第1期|共5页
作者
Yang Wen-Xu; Pan Hong; Wang Song-Tao; Li Lin; Wu Hai-Rong; Qi Yu;
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正文语种 eng
中图分类妇产科学;
关键词
array comparative genomic hybridization; genetic counseling; multiplex ligation-dependent probe amplification; prenatal diagnosis; Wolf-Hirschhorn syndrome;

机译：阵列比较基因组杂交;遗传咨询;多重连接依赖探针扩增;产前诊断;Wolf-Hirschhorn综合征;

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1. 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
2. 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
3. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family [J] . ChenC.-P., ChangS.-D., WangT.-H., Taiwanese journal of obstetrics and gynecology . 2013,第4期

机译：通过阵列比较基因组杂交检测胎儿出生前诊断为肾积水，输尿管和多囊性肾脏，并且该家庭临床谱可变的胎儿中17q12微缺失的复发传播
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. 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技术分析10例中国狼-Hirschhorn综合征患者的基因型和表型
7. 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 [O] . Wen-Xu Yang, Hong Pan, Song-Tao Wang, 2016

机译：通过多重连接依赖性探针扩增和阵列比较基因组杂交检测来自Wolf-Hirschhorn综合征家族胎儿的2p25.3微复制的复发性4p16.3微缺失

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

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