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.
Edited by:
Steven L. Gersen,
Martha B. Keagle
Imprint: Springer-Verlag New York Inc.
Country of Publication: United States
Edition: 3rd ed. 2013
Dimensions:
Height: 279mm,
Width: 210mm,
Spine: 30mm
Weight: 2.002kg
ISBN: 9781489997203
ISBN 10: 1489997202
Pages: 569
Publication Date: 02 April 2015
Audience:
Professional and scholarly
,
Undergraduate
Format: Paperback
Publisher's Status: Active
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
Reviews for The Principles of Clinical Cytogenetics
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)
