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Array Comparative Genomic Hybridization in Cytogenetics and Molecular Genetics

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Molecular Genetics and Personalized Medicine

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

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Abstract

Variations in the human genome range from single nucleotide changes to whole chromosomal aneuploidies. De novo single nucleotide changes are estimated to occur at a rate of 1.7 × 10−8 per nucleotide in every generation (Kondrashov, Hum Mutat 21(1):12–27, 2003). These sequence variations include coding and noncoding nucleotide changes that may or may not be important in disease. At the opposite end of the spectrum are large segmental genomic rearrangements (inversions and translocations) and copy number changes (CNCs), that is, aneuploidies, marker chromosomes, and large interstitial deletions and duplications. The portion of the human genome that shows variations in segmental genomic copy numbers between individuals accounts for 12% of the DNA. Moreover, de novo copy number changes in newborns are expected to occur once in every 8 births for deletions and once in every 50 births for duplications (van Ommen, Nat Genet 37(4):333–334, 2005).

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Authors and Affiliations

  1. Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, 615 Michael St. Suite 301, Atlanta, GA, 30322, USA

    S. Hussain Askree Ph.D., M.B.B.S. & Madhuri R. Hegde Ph.D., FACMG

  2. Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    S. Hussain Askree Ph.D., M.B.B.S.

Authors
  1. S. Hussain Askree Ph.D., M.B.B.S.
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  2. Madhuri R. Hegde Ph.D., FACMG
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Correspondence to Madhuri R. Hegde Ph.D., FACMG .

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Editors and Affiliations

  1. , Department of Pathology, University of Utah School of Medicine, Salt Lake City, 84108, Utah, USA

    D. Hunter Best

  2. , Department of Pathology, University of Utah School of Medicine, Salt Lake City, 84108, Utah, USA

    Jeffrey J. Swensen

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Askree, S.H., Hegde, M.R. (2012). Array Comparative Genomic Hybridization in Cytogenetics and Molecular Genetics. In: Best, D., Swensen, J. (eds) Molecular Genetics and Personalized Medicine. Molecular and Translational Medicine. Springer, New York, NY. https://doi.org/10.1007/978-1-61779-530-5_2

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  • DOI: https://doi.org/10.1007/978-1-61779-530-5_2

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