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Human Genetic DiversityFunctional Consequences for Health and Disease$
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Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

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Submicroscopic structural variation and genomic disorders

Submicroscopic structural variation and genomic disorders

Chapter:
(p.125) Chapter 5 Submicroscopic structural variation and genomic disorders
Source:
Human Genetic Diversity
Author(s):

Julian C. Knight

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780199227693.003.0005

In this chapter the basis and nature of genomic disorders are described with examples including DiGeorge Syndrome, Williams-Beuren syndrome, Charcot Marie Tooth disease, Prader-Willi, and Angelman syndromes. The mechanisms whereby chromosomal rearrangements may lead to genomic disorders are described, the nature of reciprocal genomic disorders involving deletion or duplication of particular genomic regions and of genomic disorders involving parent of origin effects are also described. Mechanisms leading to genomic disorders through disruption of control of gene expression are also described. Diseases arising from terminal and subtelomeric deletions are highlighted together with the occurrence of inversions in both healthy individuals and those with diseases such as haemophilia A. The application of array comparative genome hybridisation (arrayCGH) techniques to define submicroscopic structural variation responsible for mental retardation is reviewed to illustrate the clinical utility and application of this approach.

Keywords:   submicroscopic, copy number variation, structural variation, genomic disorders, array comparative genomic hybridisation, duplication, deletion, subtelomeric, inversion, mental retardation

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