Our interest in identifying specific regions of the genome contributing to ASD led us to next investigate whether multiple overlapping de novo events were present in probands and then to compare these findings to siblings. In total, 23 probands were found to carry recurrent de novo CNVs in 6 separate regions of the genome. Each of these intervals contains from 2 to 11 de novo CNVs in unrelated probands; no de novo CNVs overlapping these regions were found in siblings. In contrast only a single recurrent de novo event was observed in siblings (16p13.11 in 2 unrelated siblings) and one CNV overlapping the region was also found in a proband (Figure 4).
