Overview
- Is the first book with comprehensive listing of both heteromorphisms and microarray changes (microdeletions, microduplications) that allows genetic lab directors and/or clinical geneticists/counselors easy and immediate access to case-relevant material
- Combines the scientific expertise of two experienced molecular/cytogeneticists and laboratory directors with a clinical geneticist who has conducted over 25,000 new patient evaluations
- Has unique and extensive discussion of clinical correlation with laboratory testing that confronts the most important challenge of modern genetics, that of distinguishing pathogenic from benign variation
- Includes supplementary material: sn.pub/extras
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About this book
The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing.
Thisbook 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 develo** techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.Similar content being viewed by others
Keywords
Table of contents (12 chapters)
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Human Chromosome Methods and Nomenclature
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Genomics and DNA Polymorphism: Molecular Cytogenetics and DNA Diagnosis
Authors and Affiliations
Bibliographic Information
Book Title: Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis
Authors: Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk
DOI: https://doi.org/10.1007/978-981-10-3035-2
Publisher: Springer Singapore
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: Springer Nature Singapore Pte Ltd. 2017
Hardcover ISBN: 978-981-10-3034-5Published: 07 April 2017
Softcover ISBN: 978-981-10-9770-6Published: 31 July 2018
eBook ISBN: 978-981-10-3035-2Published: 28 March 2017
Edition Number: 2
Number of Pages: XX, 490
Number of Illustrations: 58 b/w illustrations, 29 illustrations in colour