Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients

Authors

  • Elena A. Repnikova,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    Search for more papers by this author
  • Caroline Astbury,

    Corresponding author
    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio
    • Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205.
    Search for more papers by this author
  • Shalini C. Reshmi,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio
    Search for more papers by this author
  • Sarah N. Ramsey,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    Search for more papers by this author
  • Joan F. Atkin,

    1. Division of Molecular and Human Genetics, Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio
    2. Section of Molecular and Human Genetics, Research Institute, Nationwide Children's Hospital, Columbus, Ohio
    Search for more papers by this author
  • Devon Lamb Thrush,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio
    Search for more papers by this author
  • Anna L. Mitchell,

    1. Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio
    2. Center for Human Genetics, University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, Ohio
    Search for more papers by this author
  • Robert E. Pyatt,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio
    Search for more papers by this author
  • Kristina Reber,

    1. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio
    2. Department of Neonatology, Nationwide Children's Hospital, Columbus, Ohio
    Search for more papers by this author
  • Thomas Slavin,

    1. Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio
    2. Center for Human Genetics, University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, Ohio
    Search for more papers by this author
  • Julie M. Gastier-Foster

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio
    3. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio
    Search for more papers by this author

  • Elena A. Repnikova, Caroline Astbury, and Shalini C. Reshmi contributed equally to this work.

  • How to Cite this Article: Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. 2012. Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. Am J Med Genet Part A. 158A:1924–1933.

Abstract

The presence of more than one cell line in an individual may often be missed by classical cytogenetic analysis due to a low percentage of affected cells or analysis of cells from an unaffected or less affected germ layer. Array comparative genomic hybridization (aCGH) from whole blood or tissue is an important adjunct to standard karyotyping due to its ability to detect genomic imbalances that are below the resolution of karyotype analysis. We report results from three unrelated patients in whom aCGH revealed mosaicism not identified by peripheral blood chromosome analysis. This study further illustrates the important application of aCGH in detecting tissue-specific mosaicism, thereby leading to an improvement in the ability to provide a diagnosis for patients with normal chromosome analysis and dysmorphic features, congenital anomalies, and/or developmental delay. © 2012 Wiley Periodicals, Inc.

Ancillary