Overview
- Only comprehensive reference on normal human chromosome variation available
- Extensive photographic examples, many from personal files, are not available elsewhere
- Reference material is accessible only by time-consuming research both on and off the internet
- Is a historical document as well as one of current clinical relevance
- Authoritative: written by America Board of Medical Genetics-certified practicing clinical cytogeneticists.
- Includes supplementary material: sn.pub/extras
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Table of contents (32 chapters)
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Front Matter
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Human Chromosome Methods and Nomenclature
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Front Matter
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Chromosome Heteromorphism (Summaries)
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Front Matter
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Keywords
About this book
Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised version has updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and “not-so-normal” variations of the human karyotype with summaries and extensive reference lists organized by chromosome number.
This updated edition features concise background information on chromosome methods and applications, essential information on heteromorphism frequencies in normal and clinical populations as well as new listing and discussions of euchromatic, subtelomeric and FISH variants. The addition of two new sections make this an even more valuable reference than before. A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization. A new section on array CGH discusses the clinical challenge of interpreting copy number variations (CNVs) revealed by this newest technology, gives examples of various levels of interpretation and lists the several most common websites used in this interpretation.
Authors and Affiliations
Bibliographic Information
Book Title: Human Chromosome Variation: Heteromorphism and Polymorphism
Authors: Herman E. Wyandt, Vijay S. Tonk
DOI: https://doi.org/10.1007/978-94-007-0896-9
Publisher: Springer Dordrecht
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: Springer Science+Business Media B.V. 2012
eBook ISBN: 978-94-007-0896-9Published: 20 August 2011
Edition Number: 1
Number of Pages: XIX, 215
Topics: Cytogenetics, Human Genetics, Gene Function, Microarrays, Biotechnology