Jump to ContentJump to Main Navigation
Human Genetic DiversityFunctional Consequences for Health and Disease$
Users without a subscription are not able to see the full content.

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

Show Summary Details
Page of

PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 20 October 2021

Submicroscopic structural variation and genomic disorders

Submicroscopic structural variation and genomic disorders

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

Julian C. Knight

Oxford University Press

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

Oxford Scholarship Online requires a subscription or purchase to access the full text of books within the service. Public users can however freely search the site and view the abstracts and keywords for each book and chapter.

Please, subscribe or login to access full text content.

If you think you should have access to this title, please contact your librarian.

To troubleshoot, please check our FAQs , and if you can't find the answer there, please contact us .