Atlas of Human Chromosome Heteromorphisms

  • Herman E. Wyandt
  • Vijay S. Tonk

Table of contents

  1. Front Matter
    Pages i-xx
  2. Review

    1. Front Matter
      Pages 1-1
    2. Herman E. Wyandt
      Pages 3-10
    3. Gopalrao V. N. Velagaleti, Vijay S. Tonk
      Pages 11-31
    4. Herman E. Wyandt, Vijay S. Tonk
      Pages 33-46
    5. Shivanand R. Patil, Herman E. Wyandt
      Pages 47-62
    6. S. M. Jalal, R. P. Ketterling
      Pages 75-86
    7. Herman Wyandt, Vijay Tonk
      Pages 87-95
    8. Brynn Levy, Peter E. Warburton
      Pages 97-105
    9. Willmar Patino, Mauricio Arcos-Burgos, Roger V. Lebo
      Pages 107-125
  3. Plates

    1. Herman E. Wyandt, Vijay S. Tonk
      Pages 127-273
  4. Back Matter
    Pages 275-279

About this book

Introduction

Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).

Keywords

Chromosom FISH Fluoreszenz in situ-Hybridisierung Laboratory chromosome evolution phenotype

Editors and affiliations

  • Herman E. Wyandt
    • 1
  • Vijay S. Tonk
    • 2
  1. 1.Center for Human GeneticsBoston University School of MedicineBostonUSA
  2. 2.Department of Pediatrics and PathologyTexas Tech University Health Sciences CenterLubbockUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-94-017-0433-5
  • Copyright Information Springer Science+Business Media B.V. 2004
  • Publisher Name Springer, Dordrecht
  • eBook Packages Springer Book Archive
  • Print ISBN 978-90-481-6296-3
  • Online ISBN 978-94-017-0433-5
  • About this book
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