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: 27 October 2021

Cytogenetics and large scale structural genomic variation

Cytogenetics and large scale structural genomic variation

(p.85) Chapter 3 Cytogenetics and large scale structural genomic variation
Human Genetic Diversity

Julian C. Knight

Oxford University Press

Cytogenetics has played a fundamental role in advancing our understanding of human genetic variation. Advances in this field are set in a historical context, describing the microscopically visible variation involving gain or loss of whole chromosomes and major chromosomal rearrangements. The molecular basis and features of Down syndrome, Klinefelter syndrome, and Turner syndrome are reviewed. Chromosomal rearrangements between and within chromosomes are reviewed including reciprocal and Robertsonian translocations, deletions, duplications, and inversions. The important class of genomic disorders involving gain or loss of dosage sensitive genes is introduced. Other structural variation including marker chromosomes and isochromosomes are also discussed.

Keywords:   structural genetic variation, chromosome, genomic disorders, translocation, deletion, inversion, duplication, chromosomal rearrangement, trisomy, monosomy

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 .