title: Sequencing and analyzing the t(1;7) reciprocal translocation breakpoints associated with a case of childhood-onset schizophrenia/autistic disorder.
abstract: We characterized a t(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a approximately 16-kb interval. A cosmid containing the translocation-associated 1:7 junction on der(1) was isolated and sequenced, revealing the positions on chromosomes 1 and 7, respectively, where the translocation occurred. PCR-based studies enabled the isolation and sequencing of the reciprocal 7:1 junction on der(7). No currently recognized gene on either chromosome appears to be disrupted by the translocation. We further found no evidence for copy-number differences in the genomic regions flanking the translocation junctions in the patient. Our efforts provide sequence-based information about a schizophrenia/autism-associated translocation, and may facilitate future studies investigating the genetic bases of these disorders.
authors: Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, 50 South Drive, Bethesda, MD 20892, USA.
authors: Jacquelyn R
authors: JR
authors: Idol
authors: Anjene M
authors: AM
authors: Addington
authors: Robert T
authors: RT
authors: Long
authors: Judith L
authors: JL
authors: Rapoport
authors: Eric D
authors: ED
authors: Green
mesh_terms: D001321:Autistic Disorder / Q000453:epidemiology* / Q000235:genetics*; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003001:Cloning, Molecular; D003360:Cosmids / Q000235:genetics; D039721:Diagnostic and Statistical Manual of Mental Disorders; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics; D012561:Schizophrenia, Childhood / Q000453:epidemiology* / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr