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Title The principles of clinical cytogenetics / Steven L. Gersen, Martha B. Keagle, editors
Edition 3rd ed
Published New York : Springer, 2013


Description 1 online resource (561 pages)
Contents Part I. Basic Concepts and Background. History of Clinical Cytogenetics / Steven L. Gersen -- DNA, Chromosomes, and Cell Division / Martha B. Keagle -- Human Chromosome Nomenclature: An Overview and Definition of Terms / Marilyn L. Slovak, Aaron Theisen, Lisa G. Shaffer -- Part II. Examining and Analyzing Chromosomes. Basic Cytogenetics Laboratory Procedures / Martha B. Keagle, Steven L. Gersen -- The Essentials of Light Microscopy / Nathan S. Claxton, Stephen T. Ross -- Quality Control and Quality Assurance / Martha B. Keagle -- Instrumentation in the Cytogenetics Laboratory / Steven L. Gersen -- Part III. Clinical Cytogenetics. Autosomal Aneuploidy / Jin-Chen C. Wang -- Structural Chromosome Rearrangements / Kathleen Kaiser-Rogers, Kathleen W. Rao -- Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex Development / Cynthia M. Powell -- The Cytogenetics of Infertility / Linda Marie Randolph -- Prenatal Cytogenetics / Linda Marie Randolph -- The Cytogenetics of Spontaneous Abortion / Solveig M.V. Pflueger, -- Chromosome Instability / Xiao-Xiang Zhang, -- Part IV. Cancer Cytogenetics. The Cytogenetics of Hematologic Neoplasms / Aurelia Meloni-Ehrig -- The Cytogenetics of Solid Tumors / Linda D. Cooley, Kathleen S. Wilson -- Part V. Adjunct Technologies -- Fluorescence In Situ Hybridization (FISH) / Daynna J. Wolff -- Microarray-Based Cytogenetics / Lisa G. Shaffer -- Part VI. Beyond Chromosomes. Fragile X--A Family of Disorders: Changing Phenotype and Molecular Genetics / Elaine B. Spector -- Genomic Imprinting and Uniparental Disomy / Jin-Chen C. Wang -- Genetic Counseling / Sarah Hutchings Clark
Summary 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
Bibliography Includes bibliographical references
Notes English
Print version record
Subject Human chromosome abnormalities -- Diagnosis.
Human cytogenetics.
Chromosomes -- genetics
Cytogenetic Analysis -- methods
MEDICAL -- Genetics.
Human chromosome abnormalities -- Diagnosis
Human cytogenetics
Form Electronic book
Author Gersen, Steven L
Keagle, Martha B
ISBN 9781441916884