Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

Authors

  • Jonathan S. Berg,

    1. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina
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  • Lorraine Potocki,

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    2. Texas Children's Hospital, Texas Children's Hospital, Houston, Texas
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  • Carlos A. Bacino

    Corresponding author
    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
    2. Texas Children's Hospital, Texas Children's Hospital, Houston, Texas
    • Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, 6701 Fannin CCC 1560, Houston, TX 77030.
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  • How to cite this article: Berg JS, Potocki L, Bacino CA. 2010. Common recurrent microduplication syndromes: Diagnosis and management in clinical practice. Am J Med Genet Part A 152A:1066–1078.

Abstract

Details on the phenotypic consequences of genomic microdeletions and microduplications are rapidly emerging in the wake of increased utilization of high-resolution methods for the detection of genomic copy number variants (CNVs). Due to their recent discovery, the complete phenotypic characterization of these syndromes is still in progress. For practicing clinicians, this unprecedented molecular diagnostic capability has in many cases outpaced our ability to convey conclusive information regarding these conditions to patients and family members. In particular, genomic microduplication syndromes are frequently associated with variable phenotypes and incomplete penetrance, leading to difficulty in counseling regarding the potential future consequences of a given microduplication. In this review, we have attempted to provide an initial set of recommendations for the management of patients with recurrent microduplication syndromes. We summarize the clinical information for microduplications of 14 different genomic regions and provide a framework for clinical evaluation and anticipatory guidance in these conditions. It is our expectation that these preliminary guidelines will be revised further for each microduplication syndrome as more information becomes available. © 2010 Wiley-Liss, Inc.

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