Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Shibalik MisraGreg PetersElizabeth BarnesSimone Ardern-HolmesRichard WebsterChristopher TroedsonShekeeb S MohammadDeepak GillManoj MenezesSachin GuptaPeter ProcopisJayne AntonyManju A KurianRussell C DalePublished in: Neurology. Genetics (2019)
The use of aCGH led to a pathogenic finding in 8.59% of patients. The results support the use of aCGH as a first tier investigation in children with diverse neurologic disorders, although whole-genome sequencing may replace aCGH as the detection method in the future. In particular, the yield was increased in children with developmental delay, dysmorphism, cortical visual impairment, and microcephaly.