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

Anna Brunet, Lluís Armengol, Trini Pelaez, Roser Guillamat, Vicenç Vallès, Elisabeth Gabau, Xavier P. Estivill, Miriam Guitart

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Article number4
JournalBehavioral and Brain Functions
Volume4
DOIs
Publication statusPublished - 19 Feb 2008
Externally publishedYes

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Schizophrenia
DiGeorge Syndrome
Chromosome Aberrations
Multiplex Polymerase Chain Reaction
Chromosome 22q11.2 Microduplication Syndrome
Chromosomes
Genes

ASJC Scopus subject areas

  • Behavioral Neuroscience
  • Biological Psychiatry
  • Cognitive Neuroscience

Cite this

Brunet, A., Armengol, L., Pelaez, T., Guillamat, R., Vallès, V., Gabau, E., ... Guitart, M. (2008). Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia. Behavioral and Brain Functions, 4, [4]. https://doi.org/10.1186/1744-9081-4-4

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 P.; Guitart, Miriam.

In: Behavioral and Brain Functions, Vol. 4, 4, 19.02.2008.

Research output: Contribution to journalArticle

Brunet, Anna ; Armengol, Lluís ; Pelaez, Trini ; Guillamat, Roser ; Vallès, Vicenç ; Gabau, Elisabeth ; Estivill, Xavier P. ; Guitart, Miriam. / Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia. In: Behavioral and Brain Functions. 2008 ; Vol. 4.
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