Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

Authors

  • Caroline Alby,

    1. Obstetrics and Gynecology Department, Hôpital Necker-Enfant Malades, AP-HP, Paris, France
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  • Bettina Bessieres,

    1. Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfant Malades, AP-HP, Paris, France
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  • Eric Bieth,

    1. Service de Génétique, Hôpital Purpan, Toulouse, France
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  • Tania Attie-Bitach,

    1. Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfant Malades, AP-HP, Paris, France
    2. Unité INSERM U-781, Université Paris Descartes, Institut IMAGINE, Paris, France
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  • Laurent Fermont,

    1. Cardiology Department, Institut de Puériculture, Paris, France
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  • Isabelle Citony,

    1. Service de Génétique, CHU Fort de France, Martinique, France
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  • Ferechté Razavi,

    1. Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfant Malades, AP-HP, Paris, France
    2. Unité INSERM U-781, Université Paris Descartes, Institut IMAGINE, Paris, France
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  • Michel Vekemans,

    1. Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfant Malades, AP-HP, Paris, France
    2. Unité INSERM U-781, Université Paris Descartes, Institut IMAGINE, Paris, France
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  • Fabienne Escande,

    1. Clinique de Génétique médicale, CHRU de Lille, France
    2. Laboratoire de Biologie Moléculaire, Centre de Biologie Pathologie, Lille, France
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  • Sylvie Manouvrier,

    1. Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France
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  • Valérie Malan,

    1. Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfant Malades, AP-HP, Paris, France
    2. Unité INSERM U-781, Université Paris Descartes, Institut IMAGINE, Paris, France
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  • Jeanne Amiel

    Corresponding author
    1. Unité INSERM U-781, Université Paris Descartes, Institut IMAGINE, Paris, France
    • Département de Génétique Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfant Malades, AP-HP, Paris, France
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  • Conflict of interest: none.

Correspondence to:

Jeanne Amiel Département de Génétique Tour Lavoisier 2ème étage Hôpital Necker 149 rue de Sèvres 7015, Paris, France.

E-mail: amiel@necker.fr

Abstract

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability. © 2013 Wiley Periodicals, Inc.

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