Cytogenetic Abnormalities

Cytogenetic Abnormalities PDF
Author: Susan Mahler Zneimer
Publisher: John Wiley & Sons
ISBN: 1118912497
Size: 75.61 MB
Format: PDF, Docs
Category : Science
Languages : en
Pages : 664
View: 4741

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Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Cytogenetic Abnormalities

Cytogenetic Abnormalities PDF
Author: Susan Mahler Zneimer
Publisher:
ISBN: 9781118412602
Size: 17.84 MB
Format: PDF, ePub
Category : SCIENCE
Languages : en
Pages : 647
View: 1562

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"This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to communicate these findings in standardized laboratory reports"--Provided by publisher.

The Principles Of Clinical Cytogenetics

The Principles of Clinical Cytogenetics PDF
Author: Steven L. Gersen
Publisher: Springer Science & Business Media
ISBN: 1592598331
Size: 65.95 MB
Format: PDF, Mobi
Category : Medical
Languages : en
Pages : 596
View: 7216

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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.

Human Cytogenetics Malignancy And Acquired Abnormalities

Human Cytogenetics    Malignancy and acquired abnormalities PDF
Author: Denise E. Rooney
Publisher: Oxford University Press, USA
ISBN: 9780199638413
Size: 70.67 MB
Format: PDF, ePub, Docs
Category : Medical
Languages : en
Pages : 287
View: 5096

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The advent of molecular technologies has lead to a rapid acceleration in the cytogenetic study of malignancy and acquired abnormalities. As well as having a chapter devoted to molecular technologies (FISH, PRINS, and CGH), molecular methodology is emphasized in all chapters, for example the role of CGH in solid tumour cytogenetics. Classical techniques are not forgotten, with a detailed description of the preparation and analysis of chromosomes from bone marrow and leukaemic blood. This is followed by three chapters on the specific methodology for the cytogenetic study of myeloid leukaemia, acute lymphoblastic leukaemia, and lymphomas and lymphoproliferative disorders. Also covered are chromosome instability syndromes, mutagen-induced chromosome damage in lymphocytes and the role of cytogenetics in the assessment of haematological disorders. This book will be invaluable to any scientists using cytogenetics to study malignancy and along with its sister volume Human Cytogenetics: Constitutional Analysis will be an essential purchase for any cytogenetics laboratory. The volumes are available individually or as a set.

Cancer Cytogenetics

Cancer Cytogenetics PDF
Author: Sverre Heim
Publisher: John Wiley & Sons
ISBN: 1118795512
Size: 78.88 MB
Format: PDF, ePub
Category : Medical
Languages : en
Pages : 648
View: 1455

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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

Hematologic Malignancies

Hematologic Malignancies PDF
Author: Manorama Bhargava
Publisher: Springer Nature
ISBN: 9813347996
Size: 29.61 MB
Format: PDF, Kindle
Category :
Languages : en
Pages :
View: 2945

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Chronic Myeloproliferative Disorders

Chronic Myeloproliferative Disorders PDF
Author: Barbara J. Bain
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805573073
Size: 16.37 MB
Format: PDF, ePub
Category : Medical
Languages : en
Pages : 131
View: 6267

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This publication provides a comprehensive and up-to-date review of the significance of cytogenetic and molecular genetic abnormalities in the chronic myeloid leukaemias and other myeloproliferative disorders. This book will therefore be an important reference text, not only for haematologists, but also for molecular geneticists and cytogeneticists, and anyone involved in leukaemia research.

Hematopathology

Hematopathology PDF
Author: Faramarz Naeim
Publisher: Academic Press
ISBN: 9780080919485
Size: 78.93 MB
Format: PDF, Kindle
Category : Science
Languages : en
Pages : 612
View: 664

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This comprehensive, full color hematopathology reference book emphasizes immunophenotpic features, cytogenetic studies, and diagnostic molecular aspects. Hematopathology begins with introductions to morphologic evaluation of the hematopoietic tissues and principles of immunophenotyping, cytogenetics and molecular studies followed by chapters dedicated to different types of hematologic disorders. Each chapter starts with a basic overview of hematopathlogy followed by a comprehensive review of immunophenotypic, cytogenetic and molecular findings. The text is balanced with large numbers of full color images, graphs, charts, and tables to assist the reader in understanding these highly technical issues. * Emphasizes the immunophenotypic features, cytogenetic studies, and diagnostic molecular aspects of hematology * Features hundreds of images, charts and tables for the identification of hematologic disorders not only based on histopathologic features, but also with the use of advanced accessory techniques.

Cancer Cytogenetics

Cancer Cytogenetics PDF
Author: John Swansbury
Publisher: Springer Science & Business Media
ISBN: 1592593631
Size: 28.68 MB
Format: PDF
Category : Medical
Languages : en
Pages : 283
View: 4943

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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. Included are tutorials on the fundamentals of human karyotypes and chromosome analysis, as well as detailed discussions on how laboratories may optimally upgrade their repertoire of capabilities to include such newer complementary techniques as CGH, FISH, and M-FISH.

Cancer Cytogenetics

Cancer Cytogenetics PDF
Author: Sverre Heim
Publisher: John Wiley & Sons
ISBN: 1118795539
Size: 43.96 MB
Format: PDF, ePub, Docs
Category : Medical
Languages : en
Pages : 648
View: 4465

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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

Cytogenetic Laboratory Management

Cytogenetic Laboratory Management PDF
Author: Susan Mahler Zneimer
Publisher: John Wiley & Sons
ISBN: 1119069777
Size: 30.34 MB
Format: PDF, Docs
Category : Science
Languages : en
Pages : 840
View: 5033

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Cytogenetic Laboratory Management: Chromosomal, FISH and Microarray-Based Best Practices and Procedures is a practical guide that describes how to develop and implement best practice processes and procedures in the genetic laboratory setting. The text first describes good laboratory practices, including quality management, design control of tests and FDA guidelines for laboratory developed tests, and pre-clinical validation study designs. The second focus of the book describes best practices for staffing and training, including cost of testing, staffing requirements, process improvement using Six Sigma techniques, training and competency guidelines and complete training programs for cytogenetic and molecular genetic technologists. The third part of the text provides step-wise standard operating procedures for chromosomal, FISH and microarray-based tests, including pre-analytic, analytic and post-analytic steps in testing, and divided into categories by specimen type, and test-type. All three sections of the book include example worksheets, procedures, and other illustrative examples that can be downloaded from the Wiley website to be used directly without having to develop prototypes in your laboratory. Providing both a wealth of information on laboratory management and molecular and cytogenetic testing, Cytogenetic Laboratory Management will be an essential tool for laboratorians world-wide in the field of laboratory testing and genetics testing in particular. This book gives the essentials of: Developing and implementing good quality management programs in laboratories Understanding design control of tests and pre-clinical validations studies and reports FDA guidelines for laboratory developed tests Use of reagents, instruments and equipment Cost of testing assessment and process improvement using Six Sigma methodology Staffing training and competency objectives Complete training programs for molecular and cytogenetic technologists Standard operating procedures for all components of chromosomal analysis, FISH and microarray testing of different specimen types This volume is a companion to Cytogenetic Abnormalities: Chromosomal, FISH and Microarray-Based Clinical Reporting. The combined volumes give an expansive approach to performing, reporting and interpreting cytogenetic laboratory testing and the necessary management practices, staff and testing requirements.