Fig. 1

Segregation of two rare CNVs in family 3019. a qPCR results for fine mapping distal and proximal ends of the DMD duplication. Results are normalised to a qPCR assay from outside the duplicated region and then compared to the father for whom the 1M SNP array indicated did not have the duplication. ASS alternative start site. b Agarose gel showing long-range PCR products. Presence of the TRPM3 deletion is indicated by an ∼8-kb fragment. c Pedigree summarising CNV status. Shaded symbols correspond to autism. Blue and red fonts indicate most likely maternal TRPM3 haplotype flow, as determined using Merlin analysis of 10K SNP data. Birth order has been switched to ensure family anonymity