Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their...

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Bibliographic Details
Main Authors: Wyandt, Herman E., Wilson, Golder N. (Author), Tonk, Vijay S. (Author)
Format: eBook
Language:English
Published: Singapore Springer Nature Singapore 2017, 2017
Edition:2nd ed. 2017
Subjects:
Online Access:
Collection: Springer eBooks 2005- - Collection details see MPG.ReNa
Table of Contents:
  • Introduction
  • Chromosome Heteromorphism
  • Frequencies of Heteromorphisms
  • Clinical Populations
  • Euchromatic Variants
  • Chromosome Heteromorphism (Summaries)- Fragile Sites
  • Chromosome Variation Detected by Fluorescent In Situ Hybridization (FISH)
  • Array-Comparative Genomic Hybridization/Microarray Analysis: Interpretation of Copy Number variants
  • A CNV Catalog
  • Gene and Genome Sequencing: Interpreting Genetic Variation at the Nucleotide Level.