Short paper

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

Anna Brunet^1,2,3 , Lluís Armengol¹ , Trini Pelaez² , Roser Guillamat^2,4 , Vicenç Vallès⁴ , Elisabeth Gabau² , Xavier Estivill^1,5 and Miriam Guitart²

¹Genes and Disease Program, Barcelona Genotyping Node, CeGen-CRG, CIBER en Epidemiología y Salud Pública (CIBERESP), Center for Genomic Regulation (CRG-UPF), Barcelona, Catalonia, Spain

²Genetic laboratory UDIAT-Centre Diagnòstic, Department of Mental Health Department of Paediatrics, Fundació Parc Taulí – Institut Universitari UAB, Corporació Sanitària Parc Taulí, Sabadell, Catalonia, Spain

³Unitat d'Antropologia Biològica, Departament de Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Catalonia, Spain

⁴Department of Mental Health, Consorci Sanitari de Terrassa, Terrassa, Catalonia, Spain

⁵Department of Health and Experimental Life Sciences, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain

author email corresponding author email

Behavioral and Brain Functions 2008, 4:10doi:10.1186/1744-9081-4-10

Published:	19 February 2008

Abstract

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.