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首页> 外文期刊>Molecular cytogenetics >Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
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Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

机译：染色体微阵列分析在诊断智力残疾，全球发展延迟和自闭症中的重要性和用法;并为这些疾病发现新的基因座

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Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also contributes to the identification of genes that are responsible for the phenotypes in the new copy number variations. Chromosomal microarray analysis was conducted on 124 patients with intellectual disability and global developmental delay. Multiplex ligation-dependent probe amplification was used for the confirmation of chromosome 22q11.2 deletion/duplication. 26 pathogenic and likely pathogenic copy number variations were detected in 23 patients (18.55%) in a group of 124 Turkish patients with intellectual disability and global developmental delay. Chromosomal microarray analysis revealed pathogenic de novo Copy number variations, such as a novel 2.9-Mb de novo deletion at 18q22 region with intellectual disability and autism spectrum disorder, and a 22q11.2 region homozygote duplication with new clinical features. Our data expand the spectrum of 22q11.2 region mutations, reveal new loci responsible from autism spectrum disorder and provide new insights into the genotype-phenotype correlations of intellectual disability and global developmental delay.
机译：染色体微阵列分析是一种用于诊断知识分子残疾和全球发展延误的第一阶段测试。染色体微阵列分析可以检测众所周知的微筛查综合征。它还有助于鉴定对新拷贝数变异中的表型负责的基因。在124例智力残疾患者和全球发展延迟进行染色体微阵列分析。多重连接依赖性探针扩增用于确认染色体22Q11.2缺失/重复。 26例致病性和可能的​​致病拷贝数变异在124名智力残疾患者中的23名患者（18.55％）中检测到（18.55％）和全球发展延迟。染色体微阵列分析显示出致病性DE Novo拷贝数变异，例如11月18 Q22的新型2.9-MB de Novo缺失，具有智力残疾和自闭症谱系障碍，以及新的临床特征的22Q11.2区域纯合子术。我们的数据扩展了22Q11.2区突变的频谱，揭示了责任自闭症谱系障碍的新基因座，并为智力残疾基因型表型相关性提供新的见解和全球发展延迟。

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