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Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

Authors

  • Audrey Putoux,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France
    2. CRNL, CNRS UMR 5292, INSERM U1028, Université Claude Bernard Lyon 1, Lyon, France
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  • Audrey Labalme,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France
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  • Jean-Marie André,

    1. Hospices Civils de Lyon, Institut d'Hématologie et d'Oncologie Pédiatrique, Service d'Hématologie Pédiatrique, Hôpital Femme-Mère-Enfant, Bron, France
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  • Marianne Till,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France
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  • Caroline Schluth-Bolard,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France
    2. CRNL, CNRS UMR 5292, INSERM U1028, Université Claude Bernard Lyon 1, Lyon, France
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  • Jérôme Berard,

    1. Hospices Civils de Lyon, Service d'Orthopédie Pédiatrique, Hôpital Femme-Mère-Enfant, Bron, France
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  • Yves Bertrand,

    1. CRNL, CNRS UMR 5292, INSERM U1028, Université Claude Bernard Lyon 1, Lyon, France
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  • Patrick Edery,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France
    2. CRNL, CNRS UMR 5292, INSERM U1028, Université Claude Bernard Lyon 1, Lyon, France
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  • Guy Putet,

    1. Hospices Civils de Lyon, Service de Réanimation Néonatale, Hôpital de la Croix-Rousse, Lyon, France
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  • Damien Sanlaville

    Corresponding author
    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, Bron, France
    2. CRNL, CNRS UMR 5292, INSERM U1028, Université Claude Bernard Lyon 1, Lyon, France
    • Service de Cytogénétique, Centre de Biologie et de Pathologie Est, 59 Boulevard Pinel, Bron Cedex 69677, France.
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  • How to Cite this Article: Putoux A, Labalme A, André JM, Till M, Schluth-Bolard C, Berard J, Bertrand Y, Edery P, Putet G, Sanlaville D. 2013. Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy. Am J Med Genet Part A 161A:331–337.

Abstract

We report on a child with Jacobsen syndrome (JBS, OMIM 147791) and abnormalities consistent with Beckwith–Wiedemann syndrome (BWS, OMIM 130650). The constitutional karyotype was apparently normal, but FISH analysis with probes specific for the short and long arms of chromosome 11 found 11qter deletion with 11pter trisomy in 80% of the cells studied. Array-CGH identified breakpoints in the 11p15.3 and 11q24.1 regions consistent with Jacobsen and Beckwith–Wiedemann syndromes. We suggest that this chromosome imbalance results from a pericentric inversion of chromosome 11 inherited from the father, with mosaicism resulting from meiotic recombination of a paternal inversion followed by mitotic recombination during the first embryonic divisions. This hypothesis is supported by the results of microsatellite marker analysis. Three previous cases of pericentric inversion and recombination of chromosome 11 have been reported. Our case is unusual in that it combines the Jacobsen and Beckwith–Wiedemann syndromes with mosaicism. © 2013 Wiley Periodicals, Inc.

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