Research Highlights: Copy-number variation in patients with developmental delay and autistic spectrum disorders underscored by targeted exonic array CGH

摘要

Array-based comparative genomic hybridizationn(aCGH), which is used to detect copynumbernvariations (CNVs) in the genome,nhas become a widely adopted techniquenfor the genetic ana lysis of developmentalndelay/intellectual disabilities (DD/ID) andnautism spectrum disorders (ASDs) both innresearch and clinical settings. However, theninterpretation of information provided byncytogenomic microarrays is still challenging,nas CNVs can be observed in healthy individualsnas normal variants. Considerationsnin the interpretation of CNVs include size,ngenomic content in the altered interval, comparisonnwith relevant databases and the patternnof inheritance [1].