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Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia
Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogeneti...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2278148/ https://www.ncbi.nlm.nih.gov/pubmed/18284679 http://dx.doi.org/10.1186/1744-9081-4-10 |
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author | Brunet, Anna Armengol, Lluís Pelaez, Trini Guillamat, Roser Vallès, Vicenç Gabau, Elisabeth Estivill, Xavier Guitart, Miriam |
author_facet | Brunet, Anna Armengol, Lluís Pelaez, Trini Guillamat, Roser Vallès, Vicenç Gabau, Elisabeth Estivill, Xavier Guitart, Miriam |
author_sort | Brunet, Anna |
collection | PubMed |
description | Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. In addition, this region is one of the best replicated linkage findings for schizophrenia. Recently, the reciprocal microduplication on 22q11.2 has been reported as a new syndrome. Preliminary data indicates that individuals with these duplications also suffer from neuropsychiatric disorders. In this study we have investigated the appropriateness of testing schizophrenia patients for the 22q11.2 microduplication. We used multiplex ligation-dependent probe amplification (MLPA) to measure copy number changes on the 22q11.2 region in a sample of 190 patients with schizophrenia. Our results corroborate the prevalence of the 22q11.2 microdeletion in patients with schizophrenia and clinical features of DG/VCFS and do not suggest an association between 22q11.2 microduplication and schizophrenia. |
format | Text |
id | pubmed-2278148 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-22781482008-04-02 Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia Brunet, Anna Armengol, Lluís Pelaez, Trini Guillamat, Roser Vallès, Vicenç Gabau, Elisabeth Estivill, Xavier Guitart, Miriam Behav Brain Funct Short Paper Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. In addition, this region is one of the best replicated linkage findings for schizophrenia. Recently, the reciprocal microduplication on 22q11.2 has been reported as a new syndrome. Preliminary data indicates that individuals with these duplications also suffer from neuropsychiatric disorders. In this study we have investigated the appropriateness of testing schizophrenia patients for the 22q11.2 microduplication. We used multiplex ligation-dependent probe amplification (MLPA) to measure copy number changes on the 22q11.2 region in a sample of 190 patients with schizophrenia. Our results corroborate the prevalence of the 22q11.2 microdeletion in patients with schizophrenia and clinical features of DG/VCFS and do not suggest an association between 22q11.2 microduplication and schizophrenia. BioMed Central 2008-02-19 /pmc/articles/PMC2278148/ /pubmed/18284679 http://dx.doi.org/10.1186/1744-9081-4-10 Text en Copyright © 2008 Brunet et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Paper Brunet, Anna Armengol, Lluís Pelaez, Trini Guillamat, Roser Vallès, Vicenç Gabau, Elisabeth Estivill, Xavier Guitart, Miriam Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia |
title | Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia |
title_full | Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia |
title_fullStr | Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia |
title_full_unstemmed | Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia |
title_short | Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia |
title_sort | failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia |
topic | Short Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2278148/ https://www.ncbi.nlm.nih.gov/pubmed/18284679 http://dx.doi.org/10.1186/1744-9081-4-10 |
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