Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder / Jacquelyn R. IDOL in Journal of Autism and Developmental Disorders, 38-4 (April 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-4 (April 2008) . - p.668-677 Titre : Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jacquelyn R. IDOL, Auteur ; Judith RAPOPORT, Auteur ; Anjene M. ADDINGTON, Auteur ; Robert T. LONG, Auteur ; Eric D. GREEN, Auteur Année de publication : 2008 Article en page(s) : p.668-677 Langues : Anglais (eng) Mots-clés : Schizophrenia Autism Translocation Genetics Genome-analysis Cytogenetics Index. décimale : PER Périodiques Résumé : 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 ∼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. En ligne : http://dx.doi.org/10.1007/s10803-007-0435-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=340 [article] Sequencing and Analyzing the t (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-onset Schizophrenia/Autistic Disorder [Texte imprimé et/ou numérique] / Jacquelyn R. IDOL, Auteur ; Judith RAPOPORT, Auteur ; Anjene M. ADDINGTON, Auteur ; Robert T. LONG, Auteur ; Eric D. GREEN, Auteur . - 2008 . - p.668-677. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-4 (April 2008) . - p.668-677 Mots-clés : Schizophrenia Autism Translocation Genetics Genome-analysis Cytogenetics Index. décimale : PER Périodiques Résumé : 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 ∼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. En ligne : http://dx.doi.org/10.1007/s10803-007-0435-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=340

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