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Principles of Clinical Cytogenetics (eBook)

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2013 | 3rd ed. 2013
X, 569 Seiten
Springer New York (Verlag)
978-1-4419-1688-4 (ISBN)

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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.



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

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


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.

Steven L. Gersen, Ph.D.AmeriPath Northeast, Shelton, CT, USAMartha B. Keagle, M.Ed.School of Agriculture, University of Connecticut, Storrs, CT, USA

SECTION 1 - Basic Concepts and Background1. History of Clinical CytogeneticsSteven L. Gersen2. DNA, Chromosomes, and Cell Division Martha B. Keagle3. Human Chromosome Nomenclature: An Overview and Definition of TermsMarilyn L. Slovak, Aaron Theisen, and Lisa G. ShafferSECTION II - Examining and Analyzing Chromosomes4. Basic Cytogenetics Laboratory ProceduresMartha B. Keagle and Steven L. Gersen5. The Essentials of Light MicroscopyNathan Claxton and Stephen Ross6. Quality Control & Quality AssuranceMartha B. Keagle7. Instrumentation in the Cytogenetics LaboratorySteven L. GersenSECTION III – Clinical Cytogenetics8. Autosomal AneuploidyJin-Chen C. Wang9. Structural Chromosome RearrangementsKathleen Kaiser-Rogers and Kathleen Rao10. Sex Chromosomes, Sex Chromosome Disorders, and Disorders of Sex DevelopmentCynthia M. Powell11. The Cytogenetics of InfertilityLinda Marie Randolph12. Prenatal CytogeneticsLinda Marie Randolph13. The Cytogenetics of Spontaneous AbortionSolveig M. V. Pflueger14. Chromosome InstabilityXiao-Xiang ZhangSECTION IV – Cancer Cytogenetics15. The Cytogenetics of Hematologic NeoplasmsAurelia Meloni-Ehrig16. The Cytogenetics of Solid Tumors Linda D. Cooley and Kathleen S. WilsonSECTION V - Adjunct Technologies17. Fluorescence in situ Hybridization (FISH)Daynna J. Wolff18. Microarray-Based CytogeneticsLisa G. ShafferSECTION VI – Beyond Chromosomes19. Fragile X: A Family of Disorders: Changing Phenotype and Molecular GeneticsElaine B. Spector 20. Genomic Imprinting and Uniparental DisomyJin-Chen C. Wang21. Genetic CounselingSarah Hutchings Clark

Erscheint lt. Verlag 26.3.2013
Zusatzinfo X, 569 p.
Verlagsort New York
Sprache englisch
Themenwelt Medizin / Pharmazie Allgemeines / Lexika
Medizinische Fachgebiete Innere Medizin Hämatologie
Medizin / Pharmazie Medizinische Fachgebiete Onkologie
Studium 1. Studienabschnitt (Vorklinik) Biochemie / Molekularbiologie
Studium 1. Studienabschnitt (Vorklinik) Histologie / Embryologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Studium 2. Studienabschnitt (Klinik) Pathologie
Naturwissenschaften Biologie Genetik / Molekularbiologie
Schlagworte Cancer cytogenetics • Chromosome microarray • cytogenetics • Fragile X • Human chromosome nomenclature • Prenatal cytogenetics
ISBN-10 1-4419-1688-1 / 1441916881
ISBN-13 978-1-4419-1688-4 / 9781441916884
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