Clinical practice
Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication
L. Castelein, J. Steyaert, H. Peeters, G. van Buggenhout
Genetic factors play an important role in the development of psychotic disorders. With increasing evidence, several rare copy number variants (cnvs) have been identified as risk factors. We describe a patient who had two psychotic episodes during his adolescence. In this patient, a 16p11.2 duplication was detected. This duplication is a recurrent cnv associated with various somatic and psychiatric phenotypes including psychosis and schizophrenia. The potential clinical relevance of this finding is discussed.