The Principles of Clinical Cytogenetics

In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented.

Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.

SECTION 1 - Basic Concepts and Background
1. History of Clinical Cytogenetics
Steven L. Gersen

2. DNA, Chromosomes, and Cell Division
Martha B. Keagle

3. Human Chromosome Nomenclature: An Overview and Definition of Terms
Marilyn L. Slovak, Aaron Theisen, and Lisa G. Shaffer

SECTION II - Examining and Analyzing Chromosomes
4. Basic Cytogenetics Laboratory Procedures
Martha B. Keagle and Steven L. Gersen

5. The Essentials of Light Microscopy
Nathan Claxton and Stephen Ross

6. Quality Control & Quality Assurance
Martha B. Keagle

7. Instrumentation in the Cytogenetics Laboratory
Steven L. Gersen

SECTION III – Clinical Cytogenetics
8. Autosomal Aneuploidy
Jin-Chen C. Wang

9. Structural Chromosome Rearrangements
Kathleen Kaiser-Rogers and Kathleen Rao

10. Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development
Cynthia M. Powell

11. The Cytogenetics of Infertility
Linda Marie Randolph

12. Prenatal Cytogenetics
Linda Marie Randolph

13. The Cytogenetics of Spontaneous Abortion
Solveig M. V. Pflueger

14. Chromosome Instability
Xiao-Xiang Zhang

SECTION IV – Cancer Cytogenetics
15. The Cytogenetics of Hematologic Neoplasms
Aurelia Meloni-Ehrig

16. The Cytogenetics of Solid Tumors 
Linda D. Cooley and Kathleen S. Wilson

SECTION V - Adjunct Technologies
17. Fluorescence in situ Hybridization (FISH)
Daynna J. Wolff

18. Microarray-Based Cytogenetics
Lisa G. Shaffer

SECTION 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. Wang

21. Genetic Counseling
Sarah Hutchings Clark

Steven L. Gersen, Ph.D.
AmeriPath Northeast, Shelton, CT, USA

Martha B. Keagle, M.Ed.
School of Agriculture, University of Connecticut, Storrs, CT, USA