Half of the 10 large neurodevelopmental deletions were in the same genomic region on 16p13.11 (patient:control ratio=5:0, one-sided Fisher’s exact p=0.08) (Figure 1, Table 3). Using previously published estimates to more accurately calculate the control rate for 16p13.11 deletions (3/8329)28, we found a statistically significant excess in the OCD/TS cases (one-sided Fisher’s exact p=0.025). Of note, the rate of 16p13.11 deletions in this sample (0.19%) was comparable to published rates from large samples of children with neurodevelopmental disorders (n’s ~15,000) referred for genetic testing (0.11%–0.14%).28,29 Interestingly, the clinical phenotype of the 5 16p13.11 deletions did not respect traditional diagnostic boundaries: 3 patients had OCD without tics, 1 had TS without OCD, and 1 had OCD+CT. None of the patients had ASD, ID, or a seizure disorder (Table S10, available online). All 16p13.11 deletions were validated with qPCR.
