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A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

机译：大规模并行测序时代广义过度生长综合征的临床研究

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The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and prognosis. There has been a recent expansion in the number of genes associated with a mendelian overgrowth phenotype, so this review updates previous classifications of overgrowth syndromes. We also describe a clinical and molecular approach to the investigation of individuals presenting with overgrowth. This review aims to assist the clinical diagnosis of generalized overgrowth syndromes by outlining the salient features of well-known overgrowth syndromes alongside the many syndromes that have been discovered and classified more recently. We provide key clinical “handles” to aid clinical diagnosis and a list of genes to aid with panel design when using next generation sequencing, which we believe is frequently needed due to the overlapping phenotypic features seen between overgrowth syndromes.
机译：过度生长综合征不仅对于准确的遗传咨询，而且对于有关癌症监测和预后的知识的诊断都很重要。孟德尔过度生长表型相关基因的数量最近有所增加，因此本综述更新了过度生长综合征的先前分类。我们还描述了研究个体过度生长的临床和分子方法。这篇综述旨在通过概述众所周知的过度生长综合症以及最近发现和分类的许多综合症的显着特征，来协助广义过度生长综合症的临床诊断。当使用下一代测序时，我们提供了关键的临床“把手”来辅助临床诊断，并提供了一系列有助于面板设计的基因，由于过度生长综合征之间出现了重叠的表型特征，因此我们经常需要这些基因。

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