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

- We describe a patient with 9pter-q21.11 duplication and psychotic episodes.
- Genes GLDC, C9orf66, DOCK8, FOXD4 and C9orf72 are involved in neurodevelopment.
- Duplication of GLDC and C90RF72 genes may be associated with psychotic disorders.

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.