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首页> 外文期刊>Genetics research international >Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports
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Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

机译：基于微阵列的比较基因组杂交技术在产前和产后的应用：三例报告

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Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.
机译：基于微阵列的比较基因组杂交（阵列CGH）是一种新兴的分子细胞遗传学技术，可用于以亚兆碱基分辨率快速评估整个基因组。它可以立即对成千上万的基因组位点进行全面研究，因此可以有效检测DNA拷贝数变异（又称隐性基因组失衡）。阵列CGH的开发和临床应用彻底改变了患者的诊断过程，并为许多未明或无法解释的疑似有遗传原因的疾病提供了线索。在本文中，我们介绍了产前和产后三例临床病例。其中，阵列CGH发挥了重要的发现作用，以揭示染色体排列的隐秘和/或复杂性质。通过确定引起患者临床观察的遗传原因，阵列CGH可及时有效地提供准确的诊断和适当的临床管理。

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