An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

Authors

  • Fernanda S. Jehee,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil
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  • Débora R. Bertola,

    1. Instituto da Criança do Hospital das Clinicas, Faculdade de Medicina, USP, São Paulo, SP, Brazil
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  • Krishna K. Yelavarthi,

    1. Indiana University School of Medicine-Northwest, Gary, Indiana
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  • Ana C.V. Krepischi-Santos,

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

    1. Instituto da Criança do Hospital das Clinicas, Faculdade de Medicina, USP, São Paulo, SP, Brazil
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  • Angela M. Vianna-Morgante,

    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil
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  • Joris R. Vermeesch,

    1. Center for Human Genetics, Leuven, Belgium
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  • Maria Rita Passos-Bueno

    Corresponding author
    1. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil
    • Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, sala 200 CEP 05508-900, São Paulo, SP, Brazil.
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  • How to cite this article: Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos ACV, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR. 2007. An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses. Am J Med Genet Part A 143A:1912–1918.

Abstract

Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of a mosaic duplication: 46,XY,dup(11)(q11→q13.3)(29)/46,XY(6). The breakpoints were further delimited by comparative genomic hybridization microarray. We also performed fluorescent in situ hybridization analysis to determine the extension of the duplication in a patient described earlier with a duplication 11q13.5–q21. An overlapping region of less than 1.2 Mb was identified and included the duplication of genes FGF3 and FGF4 in both individuals. We discuss the possible implications of dosage effects of these genes in the onset of craniosynostosis. © 2007 Wiley-Liss, Inc.

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