Human Chromosome Variation: Heteromorphism and Polymorphism

  • Herman E. Wyandt
  • Vijay S. Tonk

Table of contents

  1. Front Matter
    Pages 1-1
  2. Human Chromosome Methods and Nomenclature

    1. Front Matter
      Pages 1-1
    2. Herman E. Wyandt, Vijay S. Tonk
      Pages 3-5
    3. Herman E. Wyandt, Vijay S. Tonk
      Pages 7-32
    4. Herman E. Wyandt, Vijay S. Tonk
      Pages 33-42
    5. Herman E. Wyandt, Vijay S. Tonk
      Pages 43-50
    6. Herman E. Wyandt, Vijay S. Tonk
      Pages 51-54
  3. Chromosome Heteromorphism (Summaries)

    1. Front Matter
      Pages 55-55
    2. Herman E. Wyandt, Vijay S. Tonk
      Pages 57-65
    3. Herman E. Wyandt, Vijay S. Tonk
      Pages 67-69
    4. Herman E. Wyandt, Vijay S. Tonk
      Pages 71-73
    5. Herman E. Wyandt, Vijay S. Tonk
      Pages 75-77
    6. Herman E. Wyandt, Vijay S. Tonk
      Pages 79-81
    7. Herman E. Wyandt, Vijay S. Tonk
      Pages 83-85
    8. Herman E. Wyandt, Vijay S. Tonk
      Pages 87-88
    9. Herman E. Wyandt, Vijay S. Tonk
      Pages 89-90
    10. Herman E. Wyandt, Vijay S. Tonk
      Pages 91-104
    11. Herman E. Wyandt, Vijay S. Tonk
      Pages 105-106
    12. Herman E. Wyandt, Vijay S. Tonk
      Pages 107-108
    13. Herman E. Wyandt, Vijay S. Tonk
      Pages 109-109

About this book

Introduction

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.

Keywords

Chromosome Copy number variations (CNVs) Fragile sites Heteromorphism Human

Authors and affiliations

  • Herman E. Wyandt
    • 1
  • Vijay S. Tonk
    • 2
  1. 1.Acupath Laboratories, Inc.PlainviewUSA
  2. 2., Department of PediatricsTexas Tech University Health Science CenLubbockUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-94-007-0896-9
  • Copyright Information Springer Science+Business Media B.V. 2012
  • Publisher Name Springer, Dordrecht
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-94-007-0895-2
  • Online ISBN 978-94-007-0896-9
  • About this book