p = 0.012) and the duplication in cases with craniofacial features (peak p = 0.010). These results are consistent with two previously reported deletion cases with multiple heart defects and two duplication patients with various facial and skeletal features50. Additionally, our data support the pathogenicity of duplications at 16p11.2 (SH2B1), duplications at 15q13.3 (BP3-BP5; CHRNA7), and deletions at 15q11.2 (BP1-BP2; NIPA1). The latter are present in ~1 in 167 affected individuals studied here and, although incompletely penetrant (0.83), are likely strong risk factors for DD in addition to schizophrenia4,51.
