
De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay
Keywords: MECP2, methyl CpG binding protein 2; FISH, fluorescence in situ hybridization; SNP, single-nucleotide polymorphism; CGH, comparative genome hybridization; CNVs, copy number variations; FoSTeS, Fork Stalling and Template Switching; IFN-α, interferon alphaX