Overview
- Editors:
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Herman E. Wyandt
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Center for Human Genetics, Boston University School of Medicine, Boston, USA
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Vijay S. Tonk
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Department of Pediatrics and Pathology, Texas Tech University Health Sciences Center, Lubbock, USA
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Table of contents (10 chapters)
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Review
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- Gopalrao V. N. Velagaleti, Vijay S. Tonk
Pages 11-31
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- Herman E. Wyandt, Vijay S. Tonk
Pages 33-46
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- Shivanand R. Patil, Herman E. Wyandt
Pages 47-62
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- Susan Bennett Olson, R. Ellen Magenis
Pages 63-73
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- S. M. Jalal, R. P. Ketterling
Pages 75-86
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- Herman Wyandt, Vijay Tonk
Pages 87-95
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- Brynn Levy, Peter E. Warburton
Pages 97-105
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- Willmar Patino, Mauricio Arcos-Burgos, Roger V. Lebo
Pages 107-125
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Plates
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- Herman E. Wyandt, Vijay S. Tonk
Pages 127-273
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Back Matter
Pages 275-279
About this book
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).
Reviews
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)
Editors and Affiliations
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Center for Human Genetics, Boston University School of Medicine, Boston, USA
Herman E. Wyandt
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Department of Pediatrics and Pathology, Texas Tech University Health Sciences Center, Lubbock, USA
Vijay S. Tonk