Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33 Mb inherited microduplication at 22q11.23
Keywords: array CGH, array comparative genomic hybridization; CMA, chromosome microarray analysis; CNV, copy number variations; CT, computed tomography; DGS, DiGeorge Syndrome; EEG, electroencephalography; FISH, fluorescence in situ hybridization; LCRs, low copy re