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Microarray-Based Cytogenetics

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The Principles of Clinical Cytogenetics

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Abstract

he field of cytogenetics has experienced many revolutions including hypotonic solution, banding, high-resolution preparation and analysis, and fluorescence in situ hybridization (FISH). However, none of these advances resulted in the rapid identification of novel cytogenetic aberrations that microarray analysis has achieved. This chapter will review the various types of genomic microarrays available to identify copy number gains and losses of the genome that result in chromosomal abnormalities. As with any new technology, there are advantages and challenges that accompany innovation. However, even with these challenges, the enormous potential of microarray testing for uncovering the etiologies of intellectual, developmental, and physical disabilities is staggering. While cytogeneticists are accustomed to unusual findings in the laboratory, the amount of data and the interpretive challenge of microarray data were not anticipated. These challenges, as well as the advantages of microarrays, will be explored.

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Notes

  1. 1.

    http://decipher.sanger.ac.uk/

  2. 2.

    http://projects.tcag.ca/variation/

  3. 3.

    http://agserver01.azn.nl:8080/ecaruca/ecaruca.jsp

  4. 4.

    http://www.genoglyphix.com

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Acknowledgments

Microarray analysis for Figs. 18.1, 18.2, 18.3, 18.4, and 18.5 was performed at Signature Genomic Laboratories (Spokane, WA). Results were visualized using Signature Genomic Laboratories’ Genoglyphix® or Oncoglyphix™ software.

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  1. Signature Genomic Laboratories, 2820 North Astor, Spokane, WA, 99207, USA

    Lisa G. Shaffer Ph.D.

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    Steven L. Gersen

  2. , Department of Allied Health, University of Connecticut, 358 Mansfield Road, Storrs, 06269, Connecticut, USA

    Martha B. Keagle

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Shaffer, L.G. (2013). Microarray-Based Cytogenetics. In: Gersen, S., Keagle, M. (eds) The Principles of Clinical Cytogenetics. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1688-4_18

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