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首页> 外文期刊>Molecular cytogenetics >Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation
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Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation

机译：患者选择标准在确定多个先天性异常/精神发育迟滞的患者诊断拷贝数变异中的重要性

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摘要

Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test. Samples from 30 patients with multiple congenital anomaly and/or mental retardation were analyzed with array comparative genomic hybridization in the context of this study. Before this analysis, karyotyping, subtelomeric fluorescence in situ hybridization and additionally fragment analysis for fragile X in males, had been routinely made all of which were reported to be normal. The purpose of our study was to determine the copy number variations as well as to investigate methods to increase diagnostic yield of array comparative genomic hybridization and forming a suitable flow chart decision pipeline for test indication especially for developing countries. Genomic changes were identified at a rate of about 27% in our series. Although this ratio is higher than the literature data, it could be due to the patient selection criteria. Chromosomal microarray analysis is not easily utilized for all patients because of its high-cost. Thus, for increasing cost-effectiveness, it may be used step by step for defined targets. Along with discussing the patients with copy number variations relevant with the phenotype, we suggest a flow chart for selection of diagnostic test with the highest diagnostic rate and the lowest expenditure which is quite important for developing countries.
机译：发育延迟/智力残疾的病因非常异质。近年来，通过使用染色体微阵列分析作为第一步遗传测试来定义遗传原因。在本研究的背景下，分析了来自30名具有多个先天性异常和/或精神延迟的患者的样品。在该分析之前，核型化，亚核荧光原位杂交和雌雄酸脆杂交的碎片分析，据报道，所有这些都被据报道正常。我们研究的目的是确定拷贝数变异，并调查增加阵列比较基因组杂交的诊断产量，并形成适当的流程图决策管道，特别适用于发展中国家。在我们的系列中以约27％的速度确定基因组变化。虽然该比率高于文献数据，但它可能是由于患者选择标准。由于其高成本，所有患者不容易利用染色体微阵列分析。因此，为了提高成本效益，可以将步骤逐步用于定义的目标。除了讨论与表型相关的拷贝数变异患者，我们建议选择具有最高诊断率和对发展中国家非常重要的诊断测试的流程图。

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