Controls and patients with 22q11.2 del diagnosed with a psychotic disorder (SZ, childhood onset schizophrenia [COS], SAD) were recruited from two settings, the Albert Einstein College of Medicine (AECOM) and the National Institutes of Mental Health (NIMH), Child Psychiatry Branch. For simplicity, we will usually refer to the patient samples as SZ. The study and consent forms for the AECOM cohort were approved by the AECOM Institution Review Board (IRB) and were signed by the subjects at a time when psychotic symptoms were well-controlled with medications. For the NIMH subjects, the study and consent were approved by the NIMH IRB. For children, consent was obtained from parents, and assent was obtained from participants. Subjects were not disadvantaged in any way if they refused to participate in the study. Consent was obtained by skilled members of the research teams who had received prior human subjects training. All patients have confirmed 22q11.2 deletion as determined by FISH or CGH arrays [34]. A summary of the patients and controls used in this study are shown in Additional file 1, and more detailed clinical descriptions are provided in Additional file 2.
