Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

Hela Ben Khelifa; Najla Soyah; Audrey Labalme; Helene Guilbert

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Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

机译：知识分子残疾中的基因组微阵列：现有系统在拷贝数变异解释中的有用性

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Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or multiple congenital anomalies. However, the clinical significance of some microimbalances is not known. In this article, we succeeded to detect seven new variations of unknown significance (dup12p13.33, dup2p16.3, dupXq13.2, del12q24.33, dup16p13.il, trip4q22.1, and dup9p21.3), one CNVclassified as known pathogenic syndrome (del22q13.31-q33), and one CNV classified as potentially pathogenic (dell 1q24.3). We emphasize the role of comparative genomic hybridization arrays in the investigation of intellectual disability and evaluate the usefulness of existing systems in the interpretation of CNVs.

机译：整个基因组阵列技术是检测ID和/或多个先天性异常患者的大量拷贝数变体（CNV）的重要工具。然而，某些微观间平的临床意义是未知的。在本文中，我们成功地检测了七种未知意义的新变化（DUP12P13.33，DUP2P16.3，DUPXQ13.2，DEL12Q24.33，DUP16P13.IL，TRIP4Q22.1和DUP9P21.3），一种CNVCLASSIZED作为已知的致病性综合征（Del 22Q13.31-Q33）和一个CNV分类为潜在的病原（戴尔1Q24.3）。我们强调比较基因组杂交阵列在智力障碍调查中的作用，评价现有系统在解释中的诠释。

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来源
《Journal of pediatric genetics》 |2017年第2期|共8页
作者
Hela Ben Khelifa; Najla Soyah; Audrey Labalme; Helene Guilbert;
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作者单位

Department of Cytogenetic and Reproductive Biology FarhatHached University Teaching Hospital;

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原文格式 PDF
正文语种 eng
中图分类儿科学;
关键词
intellectual disability comparative genomic hybridization array copy number variants qPCR;

机译：智障残疾比较基因组杂交阵列拷贝数变体QPCR;

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1. Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation [J] . Hela Ben Khelifa, Najla Soyah, Audrey Labalme, Journal of pediatric genetics . 2017,第2期

机译：知识分子残疾中的基因组微阵列：现有系统在拷贝数变异解释中的有用性
2. Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability [J] . Vijay Raju Boggula, Meenal Agarwal, Rashmi Kumar, The Indian journal of medical research . 2015,第6期

机译：印度智力障碍患者的复发性良性拷贝数变异和通过细胞遗传芯片鉴定的意义不明变异的解释中的问题
3. Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability [J] . The Indian journal of medical research . 2015,第2015期

机译：印度智力障碍患者的复发性良性拷贝数变异和通过细胞遗传芯片鉴定的意义不明变异的解释中的问题
4. The Use of Lotto Baca in Improving Speech for Children with Intellectual Disability: Single Subject Research Study in Children with Intellectual Disability in Pandita Kindergarten Serang City [C] . Silvi Sundari, Febriani Agung, Wilda Famy, International Conference on Special Education . 2019

机译：乐透培根在提高智力残疾儿童演讲中的使用：帕尔塔幼儿园智能城智力患儿的单一主题研究研究
5. Rare Copy Number Variations Associated with Schizophrenia and Intellectual Disability [D] . Lowther, Chelsea. 2018

机译：与精神分裂症和智力障碍相关的稀有拷贝数变异
6. Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation [O] . Hela Ben Khelifa, Najla Soyah, Audrey Labalme, 2017

机译：智力障碍中的基因组芯片：解释拷贝数变异的现有系统的实用性。
7. Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation [O] . Najla Soyah, Audrey Labalme, Helene Guilbert, 2016

机译：基因组微阵列在智力残疾：现有系统在拷贝数变异解释中的有用性

Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

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