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Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization

Authors

  • Maja Hempel,

    Corresponding author
    1. Institute of Human Genetics, Technische Universität München, Munich, Germany
    2. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
    • Institute of Human Genetics, Technische Universität München, Trogerstraße 32, D-81675 Munich, Germany.
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  • Nuria Rivera Brugués,

    1. Institute of Human Genetics, Technische Universität München, Munich, Germany
    2. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • Janine Wagenstaller,

    1. Institute of Human Genetics, Technische Universität München, Munich, Germany
    2. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • Gaby Lederer,

    1. Institute of Human Genetics, Technische Universität München, Munich, Germany
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  • Andrea Weitensteiner,

    1. Department of Pediatrics, Technische Universität München, Munich, Germany
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  • Heide Seidel,

    1. Institute of Human Genetics, Technische Universität München, Munich, Germany
    2. Institute of Human Genetics, Ludwig-Maximilians-Universität München, Munich, Germany
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  • Thomas Meitinger,

    1. Institute of Human Genetics, Technische Universität München, Munich, Germany
    2. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • Tim M. Strom

    1. Institute of Human Genetics, Technische Universität München, Munich, Germany
    2. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • How to cite this article: Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM. 2009. Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization. Am J Med Genet Part A 149A:2106–2112.

Abstract

The pericentromeric region on 16p appears to be susceptible to chromosomal rearrangements and several patients with rearrangements in this region have been described. We report on a further patient with a microdeletion 16p11.2-p12.2 in the context of described patients with a deletion in the pericentromeric region of 16p. Minor facial anomalies, feeding difficulties, significant delay in speech development, and recurrent ear infections are common symptoms of the microdeletion syndrome 16p11.2-p12.2. All reported patients so far share a common distal breakpoint at 16p12.2 but vary in the proximal breakpoint at 16p11.2. The microdeletion 16p11.2-p12.2 should be distinguished from the ∼500 kb microdeletion in 16p11.2 which seems to be associated with autism but not with facial manifestations, feeding difficulties, or developmental delay. © 2009 Wiley-Liss, Inc.

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