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Diagnostic Cytogenetics

Diagnostic Cytogenetics
Author: Rolf-Dieter Wegner
Publisher: Springer Science & Business Media
Total Pages: 464
Release: 2013-11-11
Genre: Medical
ISBN: 3642599184

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Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics.


The AGT Cytogenetics Laboratory Manual

The AGT Cytogenetics Laboratory Manual
Author: Marilyn S. Arsham
Publisher: John Wiley & Sons
Total Pages: 1216
Release: 2017-04-24
Genre: Science
ISBN: 1119061229

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Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.


Cancer Cytogenetics

Cancer Cytogenetics
Author: Sverre Heim
Publisher: John Wiley & Sons
Total Pages: 642
Release: 2015-08-17
Genre: Medical
ISBN: 1118795539

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The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible


The Principles of Clinical Cytogenetics

The Principles of Clinical Cytogenetics
Author: Steven L. Gersen
Publisher: Springer Science & Business Media
Total Pages: 589
Release: 2008-08-17
Genre: Medical
ISBN: 1592598331

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In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday’s news, were once again “back in style. ” Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew—that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights.


Molecular Cytogenetics

Molecular Cytogenetics
Author: Yao-Shan Fan
Publisher: Springer Science & Business Media
Total Pages: 409
Release: 2008-02-05
Genre: Medical
ISBN: 1592593003

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The new techniques of molecular cytogenetics, mainly fluorescence in situ hybridization (FISH) of DNA probes to metaphase chromosomes or interphase nuclei, have been developed in the past two decades. Many FISH techniques have been implemented for diagnostic services, whereas some others are mainly used for investigational purposes. Several hundreds of FISH probes and hybridization kits are now commercially available, and the list is growing rapidly. FISH has been widely used as a powerful diagnostic tool in many areas of medicine including pediatrics, medical genetics, maternal–fetal medicine, reproductive medicine, pathology, hematology, and oncology. Frequently, a physician may be puzzled by the variety of FISH techniques and wonder what test to order. It is not uncommon that a sample is referred to a laboratory for FISH without indicating a specific test. On the other hand, a cytogeneticist or a technologist in a laboratory needs, from case to case, to determine which procedure to perform and which probe to use for an informative result. To obtain the best results, one must use the right DNA probes and have reliable protocols and measures of quality assurance in place. Also, one must have sufficient knowledge in both traditional and molecular cytogenetics, as well as the particular areas of medicine for which the test is used in order to appropriately interpret the FISH results, and to correlate them with clinical diagnosis, treatment, and prognosis.


The AGT Cytogenetics Laboratory Manual

The AGT Cytogenetics Laboratory Manual
Author: Marilyn S. Arsham
Publisher: John Wiley & Sons
Total Pages: 1218
Release: 2017-03-03
Genre: Science
ISBN: 1119061288

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Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.


Cancer Cytogenetics

Cancer Cytogenetics
Author: Lynda J. Campbell
Publisher: Humana Press
Total Pages: 273
Release: 2016-08-23
Genre: Medical
ISBN: 9781493956555

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Cytogenetic studies of malignancy have become an essential tool in the clinical management of cancer patients. Cancer Cytogenetics: Methods and Protocols presents eminently practical key cytogenetic and FISH techniques for every stage of diagnostic service. Experts in the field describe detailed cytogenetic analysis methods, fluorescence in situ hybridization and array methods currently being applied to investigate and diagnose different varieties of cancer. Written in the highly successful Methods in Molecular BiologyTM series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, and step-by-step, readily reproducible laboratory protocols. The authors of the various chapters have also provided extensive notes to guide individuals who are new to these methods through the pitfalls that bedevil all such testing. Authoritative and accessible, Cancer Cytogenetics: Methods and Protocols serves as an ideal guide to scientists of all backgrounds, allowing them to either establish new techniques in their laboratories or find the different variations of standard methods helpful in improving their results.


Human Cytogenetic Cancer Markers

Human Cytogenetic Cancer Markers
Author: Sandra R. Wolman
Publisher: Springer Science & Business Media
Total Pages: 491
Release: 2012-12-06
Genre: Medical
ISBN: 1461239524

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Seventeen cutting-edge chapters review both basic research and clinical applications of chromosomal markers of cancer. The new markers offer great promise, not only for their clinical utility in diagnosis, prognosis, and disease monitoring, but also for their contributions to a better understanding of the mechanisms of tumor development and progression. The chapters-all written by leading authorities-skillfully reveal fresh insights into the translational role of cytogenetics in identifying the cellular and molecular changes that occur in cancer. Coverage is devoted to many tissue systems-colon, breast, prostate, lung, skin, brain, and kidney-where the diagnostic and prognostic utility of chromosome markers is clearly demonstrated. A seminal book certain to become the front-line reference and authoritative resource needed by all scientists and clinicians engaged in cancer research, diagnosis, and management.


The Principles of Clinical Cytogenetics

The Principles of Clinical Cytogenetics
Author: Steven Gersen
Publisher: Humana Press
Total Pages: 0
Release: 2010-10-12
Genre: Medical
ISBN: 9781617370700

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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 the health care provider who must use and explain the often complex results of these tests, this 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, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.


Cancer Cytogenetics

Cancer Cytogenetics
Author: John Swansbury
Publisher: Springer Science & Business Media
Total Pages: 283
Release: 2008-02-05
Genre: Medical
ISBN: 1592593631

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A collection of key cytogenetic and FISH techniques used by modern clinical laboratories in the genetic analysis of human malignancies. The book's practical advice and methods are suitable for use at every level of expertise, including fully established laboratories, but with a sympathetic bias towards anyone considering setting up a new cytogenetics service. Here the reader will find not only elementary tutorials on the fundamentals of human karyotypes and chromosome analysis, but also detailed discussions on how laboratories may optimally upgrade their repertoire of capabilities to include such newer complementary techniques as CGH, FISH, and M-FISH.