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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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Cytogenetics and large scale structural genomic variation

Cytogenetics and large scale structural genomic variation

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

Julian C. Knight

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780199227693.003.0003

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

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