Fig. 3

Detection of 7q36.3 duplication. a, b High-resolution cytogenomic analysis of the proband using comparative genomic hybridization on Agilent 180 K microarray. a The whole view of chromosome 7. The microduplication is shown by an arrow. b The enlarged 7q36.3 region with imported tracks of gene annotations. The data illustrate the presence of a ~ 300 kb microduplication (arr[GRCh37] 7q36.3(156385810_156684811) × 3) encompassing LMBR1, RNF32 and C7orf13. ZRS and MACS1 enhancers of SHH are depicted as coloured bars. c Confirmation of 7q36.3 duplication using quantitative real-time PCR analysis (qPCR). qPCR data revealed three copies of the LMBR1 gene in a patient DNA sample as compared to two copies of the gene in a control DNA sample. The data were normalized against GAPDH and SHH genes using the comparative ΔΔCt method