Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

• Main Authors: Wyandt, Herman E. (Author), Wilson, Golder N. (Author), Tonk, Vijay S. (Author)
• Corporate Author: SpringerLink (Online service)
• Format: Electronic eBook
• Language: English
• Published: Singapore : Springer Singapore : Imprint: Springer, 2017.
• Edition: 2nd ed. 2017.
• Subjects: Medicine.; Medical genetics.; General practice (Medicine).; Biomedicine.; Gene Function.; General Practice / Family Medicine.

This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the pr...

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. .