Challenges in clinical interpretation of microduplications detected by array CGH analysis

Abstract excerpt

Due to the lack of robust diagnostic methods and limited resolution of conventional microscopy, submicroscopic genomic duplication copy number variants (CNVs) have been long underascertained. The development of array CGH has enabled detection of microduplications with nearly the same sensitivity as microdeletions and thus allowing them to be routinely identified throughout the human genome. However, in contrast...

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