We also inspected each of the large duplications, although these were not unique to cases in our analyses. This suggests that large duplications can be compatible with normal cognitive function, making it more difficult to suggest causality to any of the large duplications in the cases. However, some of the duplications were of interest nevertheless. In the US cohort, we have one patient who has a 9.4 Mb duplication (reported as 9.04 by PennCNV, Table 4) on chromosome 15q11.2-13.3, which extends across the Prader-Willi/Angelman syndrome critical locus, a region known to contain many segmental duplications and inverted repeats [39] (the patient does not suffer from either Prader-Willi or Angelman syndrome). This overlaps two other large duplications - a 5 Mb duplication in a Munich case (Table 4), and a de novo 1.5 Mb duplication involving APBA2 previously reported in a schizophrenia patient [40]. Additionally, it overlaps with a previously reported schizophrenia-associated deletion event at chr15:28.72–30.30 [22],[24], and we also observed a 1.16 Mb deletion in this region in a US patient. This evidence confirms a role for recurrent mutation in
