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The Principles of Clinical Cytogenetics


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Table of Contents

SECTION 1 - Basic Concepts and Background
1. History of Clinical Cytogenetics
Steven L. Gersen2. DNA, Chromosomes, and Cell Division
Martha B. Keagle3. Human Chromosome Nomenclature: An Overview and Definition of Terms
Marilyn L. Slovak, Aaron Theisen, and Lisa G. ShafferSECTION II - Examining and Analyzing Chromosomes
4. Basic Cytogenetics Laboratory Procedures
Martha B. Keagle and Steven L. Gersen5. The Essentials of Light Microscopy
Nathan Claxton and Stephen Ross6. Quality Control & Quality Assurance
Martha B. Keagle7. Instrumentation in the Cytogenetics Laboratory
Steven L. GersenSECTION III - Clinical Cytogenetics
8. Autosomal Aneuploidy
Jin-Chen C. Wang9. Structural Chromosome Rearrangements
Kathleen Kaiser-Rogers and Kathleen Rao10. Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development
Cynthia M. Powell11. The Cytogenetics of Infertility
Linda Marie Randolph12. Prenatal Cytogenetics
Linda Marie Randolph13. The Cytogenetics of Spontaneous Abortion
Solveig M. V. Pflueger14. Chromosome Instability
Xiao-Xiang ZhangSECTION IV - Cancer Cytogenetics
15. The Cytogenetics of Hematologic Neoplasms
Aurelia Meloni-Ehrig16. The Cytogenetics of Solid Tumors
Linda D. Cooley and Kathleen S. WilsonSECTION V - Adjunct Technologies
17. Fluorescence in situ Hybridization (FISH)
Daynna J. Wolff18. Microarray-Based Cytogenetics
Lisa G. ShafferSECTION VI - Beyond Chromosomes
19. Fragile X: A Family of Disorders: Changing Phenotype and Molecular Genetics
Elaine B. Spector 20. Genomic Imprinting and Uniparental Disomy
Jin-Chen C. Wang21. Genetic Counseling
Sarah Hutchings Clark

About the Author

Steven L. Gersen, Ph.D.
AmeriPath Northeast, Shelton, CT, USAMartha B. Keagle, M.Ed.
School of Agriculture, University of Connecticut, Storrs, CT, USA


From the reviews of the third edition:"The audience includes those performing clinical cytogenetic testing or using results for genetic counseling or clinical care. It also would be of interest to anyone interested in cytogenetic analysis and application, from healthcare providers ... to the educated lay public. ... This is truly a remarkable and comprehensive book on clinical cytogenetics. ... You would also want this book as a handy reference for which genetic abnormality is associated with what disease, and the best test method to use to identify the suspected abnormality." (Valerie Ng, Doody's Book Reviews, July, 2013)

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