The Principles of Clinical Cytogenetics 3/e

The Principles of Clinical Cytogenetics,3/e




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