Atlas of Human Chromosome Heteromorphisms

1. Front Matter

   Pages i-xx

   PDF

2. Review

   1. Front Matter

      Pages 1-1

      PDF

   2. Introduction

      • Herman E. Wyandt

      Pages 3-10

   3. Methods of Studying Human Chromosomes and Nomenclature. The Normal Human Karyotype

      • Gopalrao V. N. Velagaleti, Vijay S. Tonk

      Pages 11-31

   4. Normal Population Studies

      • Herman E. Wyandt, Vijay S. Tonk

      Pages 33-46

   5. Heteromorphisms in Clinical Populations

      • Shivanand R. Patil, Herman E. Wyandt

      Pages 47-62

   6. Technical Variables and the Use of Heteromorphisms in the Study of Human Chromosomes

      • Susan Bennett Olson, R. Ellen Magenis

      Pages 63-73

   7. Euchromatic Variants

      • S. M. Jalal, R. P. Ketterling

      Pages 75-86

   8. FISH Technologies

      • Herman Wyandt, Vijay Tonk

      Pages 87-95

   9. Molecular Dissection of Heteromorphic Regions

      • Brynn Levy, Peter E. Warburton

      Pages 97-105

   10. Evolution of Human Alpha Satellite Sequences Comprising Variant Centromeric Chromosome Regions

       • Willmar Patino, Mauricio Arcos-Burgos, Roger V. Lebo

       Pages 107-125

3. Plates

   1. Plates

      • Herman E. Wyandt, Vijay S. Tonk

      Pages 127-273

4. Back Matter

   Pages 275-279

   PDF

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).

• Chromosom
• FISH
• Fluoreszenz in situ-Hybridisierung
• Laboratory
• chromosome
• evolution
• phenotype

The reviewers feel this volume will be an extremely valuable resource for anyone working in a clinical cytogenetics laboratory. The editors are to be congratulated for doing a fine job in compiling this volume.
Franks S. Grass, Parke Cytogenetics Laboratory and Hon Fong L. Mark, Brown University Medical School.
(The Journal of the Association of Genetic Technologists 30 (3), 2004)

• Center for Human Genetics, Boston University School of Medicine, Boston, USA

  Herman E. Wyandt

• Department of Pediatrics and Pathology, Texas Tech University Health Sciences Center, Lubbock, USA

  Vijay S. Tonk

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