Atlas of Human Chromosome Heteromorphisms

Editors: Wyandt, Herman E., Tonk, Vijay S. (Eds.)

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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)


Table of contents (10 chapters)

Table of contents (10 chapters)

Buy this book

eBook $219.00
price for USA in USD (gross)
  • ISBN 978-94-017-0433-5
  • Digitally watermarked, DRM-free
  • Included format: PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $279.99
price for USA in USD
  • ISBN 978-1-4020-1303-4
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $279.99
price for USA in USD
  • ISBN 978-90-481-6296-3
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Atlas of Human Chromosome Heteromorphisms
Editors
  • Herman E. Wyandt
  • Vijay S. Tonk
Copyright
2004
Publisher
Springer Netherlands
Copyright Holder
Springer Science+Business Media B.V.
eBook ISBN
978-94-017-0433-5
DOI
10.1007/978-94-017-0433-5
Hardcover ISBN
978-1-4020-1303-4
Softcover ISBN
978-90-481-6296-3
Edition Number
1
Number of Pages
XX, 279
Topics