17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor

Authors

  • Caroline Schluth-Bolard,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France
    2. Faculté de Médecine Lyon Nord, Université Claude Bernard Lyon I, Lyon, France
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  • Damien Sanlaville,

    Corresponding author
    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France
    2. Faculté de Médecine Lyon Nord, Université Claude Bernard Lyon I, Lyon, France
    3. Université Claude Bernard Lyon I, Unité EA4171, Lyon, France
    • Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, 59 boulevard Pinel, 69677 Bron Cedex, France.
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  • Audrey Labalme,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France
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  • Marianne Till,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France
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  • Isabelle Morin,

    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France
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  • Renaud Touraine,

    1. Service de Génétique, Hôpital Nord, Pôle Mère-Enfant, CHU de Saint-Etienne, Saint-Etienne, France
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  • Patrick Edery

    Corresponding author
    1. Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, CBPE, Lyon, France
    2. Faculté de Médecine Lyon Nord, Université Claude Bernard Lyon I, Lyon, France
    3. Université Claude Bernard Lyon I, Unité EA4171, Lyon, France
    • Service de Cytogénétique Constitutionnelle, Centre de Biologie et de Pathologie Est, 59 boulevard Pinel, 69677 Bron Cedex, France.
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  • How to cite this article: Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Morin I, Touraine R, Edery P. 2010. 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor. Am J Med Genet Part A 152A:1278–1282.

Abstract

We report on the diagnosis of a 17p13.1 deletion in a 10-year-old boy. The patient presented with mild developmental delay, facial dysmorphism, joint hyperlaxity, pes planus, hypermetropia, hearing loss, and achromic patches following the Blaschko's lines on the right part of the thorax. Chromosome R-banding was normal. Array CGH using a 244 K oligonucleotide array showed a homogeneous de novo 17p13.1 microdeletion of 400 kb involving TP53 and 25 other genes, including genes involved in brain function (EFNB3, FXR2). To our knowledge, six patients presenting with a constitutional 17p13.1 microdeletion involving the TP53 gene have been reported. We discuss the phenotype of this microdeletion and the genetic counseling issues, especially regarding the risk of cancer associated with the deletion of the TP53 gene. © 2010 Wiley-Liss, Inc.

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