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The Principles of Clinical Cytogenetics
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Table of Contents

History of Clinical Cytogenetics.- DNA, Chromosomes, and Cell Division.- Human Chromosome Nomenclature: An Overview and Definition of Terms.- Basic Cytogenetics Laboratory Procedures.- The Essentials of Light Microscopy.- Quality Control & Quality Assurance.- Instrumentation in the Cytogenetics Laboratory.- Autosomal Aneuploidy.- Structural Chromosome Rearrangements.- Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development.- The Cytogenetics of Infertility.- Prenatal Cytogenetics.- The Cytogenetics of Spontaneous Abortion.- Chromosome Instability.- The Cytogenetics of Hematologic Neoplasms.- The Cytogenetics of Solid Tumors.- Fluorescence in situ Hybridization (FISH).- Microarray-Based Cytogenetics.- Fragile X: A Family of Disorders: Changing Phenotype and Molecular Genetics.- Genomic Imprinting and Uniparental Disomy.- Genetic Counseling.

About the Author

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

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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