title: Identification of a male schizophrenic patient carrying a de novo balanced translocation, t(4; 13)(p16.1; q21.31).
abstract: Herein is reported the case of a male patient with schizophrenia who displayed a de novo balanced translocation between the short arm of chromosome 4 and the long arm of chromosome 13, t(4; 13)(p16.1; q21.31). The 4p16.1 region is where the causative gene (WFS1) for Wolfram syndrome has been mapped. In Wolfram syndrome, approximately 60% of patients suffer from major mental illness. The other breakpoint, chromosome 13q21.31, is another region where previous linkage studies have repeatedly detected linkage to schizophrenia. The documentation of the present case could therefore provide a valuable resource for identifying disease susceptibility genes by localizing the breakpoints.
authors.affiliation: Department of Schizophrenia Research, Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan. mitokawa@prit.go.jp
authors.forename: Masanari
authors.initials: M
authors.lastname: Itokawa
authors.forename: Takehiko
authors.initials: T
authors.lastname: Kasuga
authors.forename: Takeo
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Masaaki
authors.initials: M
authors.lastname: Matsushita
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D005190:Family; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011569:Psychiatric Status Rating Scales; D012559:Schizophrenia / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic / Q000235:genetics*