A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus

A 12 year-old girl presented with cognitive disability and dysmorphic features. Chromosome microarray analysis revealed a de novo, approximately 4.5 Mb terminal deletion of the short arm of chromosome 12 at 12p13.33 region: chr12:100712–4607067. At 13 years this patient developed psychotic manifestations and was admitted to a psychiatric department for treatment. She started hearing voices, talking to herself and laughing without reason. We have previously reported a male individual with psychotic manifestations and a larger (6.2 Mb) terminal deletion in the same chromosomal region. The present case along with previous reports, define a 2 Mb region on chromosome 12p, where a psychosis-associated gene may be located. Included in this psychosis-associated area are 18 OMIM listed genes.

► A 12 year-old girl presented with cognitive disability and psychotic manifestations.
► She was found to have a 4.5 Mb terminal deletion in chromosome 12p.
► This deletion helps define the location of a psychosis-associated gene.