Rapid Diagnosis of Aneuploidy by High-Resolution Melting Analysis of Segmental Duplications

Abstract excerpt

BACKGROUND: Several molecular methods, such as quantitative fluorescence PCR and multiplex ligation-dependent probe amplification, currently serve as important adjuncts to traditional karyotyping for the diagnosis of aneuploidy; however, the performance or throughput limitations of these methods hinder their use for routine prenatal diagnosis and population-based postnatal screening. We developed a novel...

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