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.
Bronx-Lebanon Hospital Center, Bronx, NY, USA.
Hilda
H
Vargas
Gail
G
Beldia
William
W
Korosh
Vicki
V
Sudhalter
Anwar
A
Iqbal
Jose Arturo
JA
Sanchez-Lacay
Milen
M
Velinov
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics; D005260:Female; D056426:Genetic Loci; D006801:Humans; D011618:Psychotic Disorders / Q000235:genetics*