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AB078. Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children

机译:AB078。阵列比较基因组杂交技术在儿童智力障碍/发育迟缓的临床诊断中的应用

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摘要

BackgroundArray-based comparative genomic hybridization (array-CGH) has been shown to be a new successful tool in identifying genetic defects underlying intellectual disability (ID) and/or developmental delay (DD). This study was designed to analyze and evaluate the potential pathogenic genomic imbalance in children with unexplained ID/DD and its association with phenotypes, and to investigate the value of array-CGH.
机译:背景技术基于阵列的比较基因组杂交(阵列-CGH)已被证明是识别智力障碍(ID)和/或发育迟缓(DD)的遗传缺陷的新成功工具。本研究旨在分析和评估无法解释的ID / DD儿童的潜在病原体基因组失衡及其与表型的关系,并研究array-CGH的价值。

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