Genomic Architecture and Copy Number Changes

Moyra Smith

in Phenotypic Variation

Published on behalf of Oxford University Press

Published in print February 2011 | ISBN: 9780195379631
Published online October 2012 | e-ISBN: 9780199975211 | DOI:
Genomic Architecture and Copy Number Changes

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  • Clinical Genetics
  • Clinical Cytogenetics and Molecular Genetics


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This chapter discusses genomic architecture and copy number changes, including the role of genome architecture changes in evolution, generation of novel gene families through segmental duplication during evolution, genomes as complex mosaics of different segments, development of segmental duplication maps using sequence data, common and rare copy number variants, recurrent copy number variants and phenotype, mechanisms through which cnvs impact phenotype: effect on the transcriptome, variable phenotypes associated with copy number variants, overlap between different psychiatric phenotypes penetrance and contribution to complex inheritance, phenotype in microdeletion syndromes, altered gene dosage, altered homeostasis, and overlapping neurological symptoms, gene-dosage-attributable ocular phenotypes, the phenotype in telomeric and subtelomeric chromosome abnormalities, and telomeres: structure, synthesis and defects

Chapter.  6549 words.  Illustrated.

Subjects: Clinical Genetics ; Clinical Cytogenetics and Molecular Genetics

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