A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability
A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability
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DOI：
10.1016/j.gene.2013.02.043
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发表时间：
2013-05-25
期刊：
影响因子：
3.5
通讯作者：
Nevado, Julian
中科院分区：
文献类型：
--
作者：
Rodriguez-Revenga, Laia;Vallespin, Elena;Nevado, Julian
发育迟缓和智力残疾发生在1-3%的人口中，占遗传单位常见病例的很大一部分。染色体微阵列分析已被证明是一种有价值的临床诊断方法，它应该是患有这些疾病的人的第一级临床诊断试验。然而，由于平台分辨率、成本和缺乏基因组数据库经验等困难，这项测试在许多细胞遗传学实验室的实施被推迟。为了对使用染色体微阵列分析的益处提供更多的见解，本研究展示了两个临床中心使用三种不同的微阵列平台的经验。使用定制微阵列(KaryoArray(R))和两种不同的商业中高分辨率全基因组寡核苷酸微阵列获得的结果进行了比较。总诊断率约为15%。然而，定制的微阵列平台已经被证明对于临床设置更方便，因为它允许检测更多的致病拷贝数变异和不太常见的变异。(C)2013爱思唯尔B.V.保留所有权利。
Developmental delay and intellectual disability, which occur in 1-3% of the population, account for a large number of the cases regularly seen in genetic units. Chromosomal microarray analysis has been shown to be a valuable clinical diagnostic assay and it should be the first-tier clinical diagnostic test for individuals with these conditions. However and due to several difficulties such as the platform resolution, the cost, and the inexperience with genomic data bases, the implementation of this test in many cytogenetic laboratories has been delayed. In an attempt to provide more insights of the benefits derived by using the chromosomal microarray analysis, this study presents the experience of two clinical centers using three different microarray platforms. The results obtained using a custom microarray (KaryoArray (R)) and two different commercial medium- and high-resolution whole-genome oligonucleotide microarrays have been compared. An overall diagnostic yield of around 15% has been obtained. However, the custom microarray platform has been shown to be more convenient for a clinical setting, since it allows the detection of more pathogenic copy number variants and less common variants. (C) 2013 Elsevier B.V. All rights reserved.