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Chromosome Microarrays

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Molecular Diagnostics

Part of the book series: Molecular and Translational Medicine ((MOLEMED))

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Abstract

Since the late 1960s, conventional G-banded karyotype analysis has been the gold standard for the detection of genetic etiologies in patients with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA) due to its ability to interrogate the entire genome in a single assay. While chromosome studies have significant diagnostic utility, chromosomal variation smaller than 5–10 megabases (Mb) is often not visible. Whole genome chromosomal microarray (CMA) analysis has revolutionized the field of clinical cytogenetics due to the significantly increased whole genome resolution it provides. This increased resolution has allowed the definition of many new clinical syndromes and has provided vast improvements in the diagnostic yield (12–15 % versus ~4 %). As a result, CMA testing has now replaced chromosome analysis as the first-tier test in this patient population.

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Author information

Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Umut Aypar Ph.D.

  2. Neurogenetics, Array Services, Genedx, Gaithersburg, MD, USA

    Swaroop Aradhya Ph.D.

  3. Cytogenetics, Mission Health Hospital, Asheville, NC, USA

    Hutton Kearney Ph.D., F.A.C.M.G.

  4. Emory Genetics Laboratory, Emory University, Atlanta, GA, USA

    Christa Martin Ph.D.

  5. ARUP Laboratories, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA

    Sarah South Ph.D.

  6. Clinical Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Eric C. Thorland Ph.D.

Authors
  1. Umut Aypar Ph.D.
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  2. Swaroop Aradhya Ph.D.
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  3. Hutton Kearney Ph.D., F.A.C.M.G.
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  4. Christa Martin Ph.D.
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  5. Sarah South Ph.D.
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  6. Eric C. Thorland Ph.D.
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Corresponding author

Correspondence to Eric C. Thorland Ph.D. .

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Editors and Affiliations

  1. Medicine and Pathology Molecular Genetics Laboratory, Mayo Clinic College of Medicine Department of Laboratory, Rochester, Minnesota, USA

    W. Edward Highsmith, Jr.

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Aypar, U., Aradhya, S., Kearney, H., Martin, C., South, S., Thorland, E.C. (2014). Chromosome Microarrays. In: Highsmith, Jr., W. (eds) Molecular Diagnostics. Molecular and Translational Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4614-8127-0_9

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  • DOI: https://doi.org/10.1007/978-1-4614-8127-0_9

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