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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
    14. Herman E. Wyandt, Vijay S. Tonk
      Pages 111-115
    15. Herman E. Wyandt, Vijay S. Tonk
      Pages 117-122
    16. Herman E. Wyandt, Vijay S. Tonk
      Pages 123-130
    17. Herman E. Wyandt, Vijay S. Tonk
      Pages 131-134
    18. Herman E. Wyandt, Vijay S. Tonk
      Pages 135-137
    19. Herman E. Wyandt, Vijay S. Tonk
      Pages 139-142
    20. Herman E. Wyandt, Vijay S. Tonk
      Pages 143-144
    21. Herman E. Wyandt, Vijay S. Tonk
      Pages 145-146
    22. Herman E. Wyandt, Vijay S. Tonk
      Pages 147-151
    23. Herman E. Wyandt, Vijay S. Tonk
      Pages 153-156
    24. Herman E. Wyandt, Vijay S. Tonk
      Pages 157-158
    25. Herman E. Wyandt, Vijay S. Tonk
      Pages 159-166
    26. Herman E. Wyandt, Vijay S. Tonk
      Pages 167-176
  4. Fragile Sites

    1. Front Matter
      Pages 177-177
    2. Herman E. Wyandt, Vijay S. Tonk
      Pages 179-193
  5. Copy Number Variants

    1. Front Matter
      Pages 195-195
    2. Herman E. Wyandt, Vijay S. Tonk
      Pages 197-209
  6. Back Matter
    Pages 198-198

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

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