A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

Authors

  • Karina Griesi-Oliveira,

    1. Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • Danielle de Paula Moreira,

    1. Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • Nicole Davis-Wright,

    1. Child Study Center, Yale University School of Medicine, New Haven, Connecticut
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  • Stephan Sanders,

    1. Child Study Center, Yale University School of Medicine, New Haven, Connecticut
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  • Christopher Mason,

    1. Child Study Center, Yale University School of Medicine, New Haven, Connecticut
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  • Guilherme Müller Orabona,

    1. Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
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  • Estevão Vadasz,

    1. Instituto de Psiquiatria do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil
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  • Débora Romeo Bertola,

    1. Faculdade de Medicina, Instituto da Criança do Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil
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  • Matthew W. State,

    1. Child Study Center, Yale University School of Medicine, New Haven, Connecticut
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  • Maria Rita Passos-Bueno

    Corresponding author
    1. Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil
    • Instituto de Biociências, Universidade de São Paulo, Rua do Matão, 277, sala 200, Cidade Universitária, CEP 05508-090 São Paulo, SP, Brazil.
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  • How to Cite this Article: Griesi-Oliveira K, Moreira DdP, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. 2012. A Complex Chromosomal Rearrangement Involving Chromosomes 2, 5, and X in Autism Spectrum Disorder. Am J Med Genet Part B 159B:529–536.

Abstract

Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. © 2012 Wiley Periodicals, Inc.

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