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Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

Authors

  • Hagit N. Baris,

    1. Division of Genetics, Children's Hospital Boston, and Harvard Medical School, Boston, Massachusetts
    Current affiliation:
    1. Institute of Medical Genetics, Rabin Medical Center-Beilinson Hospital, Petah-Tikva, Israel.
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  • Wen-Hann Tan,

    1. Division of Genetics, Children's Hospital Boston, and Harvard Medical School, Boston, Massachusetts
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  • Virginia E. Kimonis,

    1. Division of Genetics & Metabolism, Department of Pediatrics, University of California Irvine Medical Center, Orange, California
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  • Mira B. Irons

    Corresponding author
    1. Division of Genetics, Children's Hospital Boston, and Harvard Medical School, Boston, Massachusetts
    • Division of Genetics, Children's Hospital Boston, Fegan 10, 300 Longwood Avenue, Boston, MA 02115.
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  • How to cite this article: Baris HN, Tan W-H, Kimonis VE, Irons MB. 2007. Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet Part A 143A:2523–2533.

  • Hagit N. Baris and Wen-Hann Tan contributed equally to this work.

Abstract

Array-based comparative genomic hybridization is a recently introduced technique for the detection of submicroscopic genomic imbalances (deletions or duplications) across the entire genome. To assess the potential utility of a widely available array-based comparative genomic hybridization platform that targets specific, clinically relevant, loci across the genome for cytogenetic diagnosis in a clinical setting, we reviewed the medical records of all 373 patients at Children's Hospital Boston who had normal chromosomal analysis and were tested with this targeted array-based comparative genomic hybridization over a 1-year period from November 1, 2004 to October 31, 2005. These patients were tested because of a suspicion of chromosomal abnormalities based on their clinical presentation. Thirty-six patients (9.7%) had abnormal array-based comparative genomic hybridization results. Twenty patients (5.4%) had potentially pathogenetic genomic imbalances and 16 patients (4.3%) had copy number variations that are not believed to be pathogenetic. Thirteen of 234 patients (5.6%) with mental retardation/global developmental delay, 10/114 patients (8.8%) with facial dysmorphism, 5/58 patients (8.6%) with multiple congenital anomalies, and 4/35 patients (11.4%) with both facial dysmorphism and multiple congenital anomalies had potentially pathogenetic genomic imbalances. Targeted array-based comparative genomic hybridization is a clinically available test that is useful in the evaluation of patients suspected of having chromosomal disorders. However, it is best used as an adjunct to chromosomal analysis when a clear genetic diagnosis is unavailable. © 2007 Wiley-Liss, Inc.

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