Three of the 5 large de novo CNVs reported in this study were located in regions previously associated with other neurodevelopmental disorders. The de novo events at 16p13.11 and 22q11 also had additional supporting patient events in the same locus, whereas the deletion at 17q12 was a singleton event in a patient with OCD. The final 2 de novo events were singleton deletions at novel loci: 4q24 and 7p21.1-7p21.2. The clinical significance of both events remains unclear, although pathogenic CNVs have been documented in both regions (www.iscaconsortium.org),33 including a report of a patient with Saethre-Chotzen syndrome and co-occurring TS and OCD.34
