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The Principles of Clinical Cytogenetics / Edition 3

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Overview

"In this thoroughly revised and expanded edition of The Principles of Clinical Cytogenetics, a panel of hands-on experts update their survey 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 section devoted to advances in fluorescence in situ hybridization (FISH) technology, increased coverage of cancer cytogenetics - both hematopoietic neoplasms and tumor cytogenetics - and new chapters on chromosome instability and the cytogenetics of infertility. The book also reflects major advances in instrumentation and the transition from FAB to World Health Organization nomenclature for hematopoietic disorders." The Principles of Clinical Cytogenetics, Second Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, and cytogeneticists the clear understanding they need to carry out and interpret their test results rapidly.

The book contains predominantly black-and-white illustrations, with some color illustrations.

This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for non-expert healthcare providers who must use and explain the often complex results of these tests, the book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC, reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, this book constitutes an indispensable reference for today’s physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients.

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Editorial Reviews

Booknews
Explains in detail basic concepts and interpretation involved in chromosome analysis, for physicians and non-expert health-care providers who must use and explain the often complex results of these tests. Describes various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results, and offers a tutorial on basic laboratory procedures including microscopy, photomicrography, automation, and computerized karyotyping. Also discussed are genetic counseling, and novel synergistic technologies. Includes color and b&w photos. Annotation c. by Book News, Inc., Portland, Or.
Doody's Review Service
Reviewer: Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center)
Description: This is a review of the basic concept of chromosomal analysis with a strong historical perspective. The book reviews the origin of cytogenetics in detail. Drs. Gersen and Keagle review the technology involved in understanding the examination and analysis of chromosomes. The enclosed CD is a useful source for rapid review and search.
Purpose: This book is intended to update information regarding the examination and analysis of human chromosomes. It presents specific technological information with limited clinical application. Although most chapters have been revised and new technologies described, the narrative style remains unchanged. Dr. Gersen has partially met his goals with this revision of the classic textbook for the clinically-based geneticist.
Audience: The authors indicate that the book is directed to the physician or student needing to understand the technology involved in cytogenetics. Although most physicians would benefit from this knowledge, the presentation of the information in this classic textbook may be more appealing to the full-time, laboratory-based geneticist, graduate student, or PhD candidate. Multiple illustrations are of equipment used, with very few of them clinically oriented. The authors are experienced cytogeneticists with an excellent knowledge of cytogenetics technology.
Features: The book reviews basic information obtained by cytogenetic technology in a narrative form. It does not provide deep insight into the clinical applications of cytogenetics information. However, it presents concepts that clinically-based practitioners could use to understand the rationale of cytogenetics technology. The chapter on fluorescent in situ hybridization presents a great review of this relatively new technology.
Assessment: Although the book does a great job of reviewing basic principles, unfortunately, some of the illustrations are not updated. Equipment illustrations may not be beneficial for the understanding of the principles. In addition, although the main chromosomal techniques and rearrangements are described, other books have improved the compilation of clinical implications of rare cytogenetic abnormalities, which is not presented here.

2 Stars from Doody
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Product Details

  • ISBN-13: 9781441916877
  • Publisher: Springer New York
  • Publication date: 3/31/2013
  • Edition description: 3rd ed. 2013
  • Edition number: 3
  • Pages: 569
  • Product dimensions: 8.50 (w) x 10.90 (h) x 1.40 (d)

Meet 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

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Table of Contents

Sect. I Basic concepts and background 1
1 History of clinical cytogenetics 3
2 DNA, chromosomes, and cell division 9
3 Human chromosome nomenclature : an overview and definition of terms 27
Sect. II Examining and analyzing chromosomes 59
Editors' foreword 61
4 Basic laboratory procedures 63
5 The fundamentals of microscopy 81
6 Quality control and quality assurance 93
7 Instrumentation in the cytogenetics laboratory 113
Sect. III Clinical cytogenetics 131
8 Autosomal aneuploidy 133
9 Structural chromosome rearrangements 165
10 Sex chromosomes and sex chromosome abnormalities 207
11 Cytogenetics of infertility 247
12 Prenatal cytogenetics 267
13 Cytogenetics of spontaneous abortion 323
14 Chromosome instability 347
Sect. IV Cancer cytogenetics 363
15 Cytogenetics of hematologic neoplasms 365
16 Cytogenetics of solid tumors 421
Sect. V Fluorescence in situ hybridization 453
17 Fluorescence in situ hybridization (FISH) 455
Sect. VI Beyond chromosomes 491
Editors' foreword 493
18 Fragile X : from cytogenetics to molecular genetics 495
19 Genomic imprinting and uniparental disomy 515
20 Genetic counseling 541
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