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Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

Authors: Wyandt, Herman E., Wilson, Golder N., Tonk, Vijay S.

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  • 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
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eBook $169.00
price for USA in USD (gross)
  • ISBN 978-981-10-3035-2
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $219.99
price for USA in USD
  • ISBN 978-981-10-3034-5
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $219.99
price for USA in USD
  • ISBN 978-981-10-9770-6
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
About this book

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 previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. 

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. 

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 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.

Table of contents (12 chapters)

Table of contents (12 chapters)

Buy this book

eBook $169.00
price for USA in USD (gross)
  • ISBN 978-981-10-3035-2
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $219.99
price for USA in USD
  • ISBN 978-981-10-3034-5
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $219.99
price for USA in USD
  • ISBN 978-981-10-9770-6
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis
Authors
Copyright
2017
Publisher
Springer Singapore
Copyright Holder
Springer Nature Singapore Pte Ltd.
eBook ISBN
978-981-10-3035-2
DOI
10.1007/978-981-10-3035-2
Hardcover ISBN
978-981-10-3034-5
Softcover ISBN
978-981-10-9770-6
Edition Number
2
Number of Pages
XX, 490
Number of Illustrations
58 b/w illustrations, 29 illustrations in colour
Topics