Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior

Abstract

This article describes a 19-year-old female with mild facial dysmorphism, asociality, decreased school performance, and psychotic behavior in whom the karyotype showed an extra-chromosomal marker characterized as 9p24.3-9q21.11 duplication by array-CGH. The 69. Mbp duplicated segment in this patient includes the critical 9p duplication syndrome region, the GLDC and C90RF72 genes associated with psychotic behavior and other conduct disorders, and a potential locus for autism.