The Principles of Clinical Cytogenetics

Author: Steven L. Gersen
Publisher: Springer Science & Business Media
ISBN: 9781441916884
Release Date: 2013-03-26
Genre: Medical

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.

The Principles of Clinical Cytogenetics

Author: Steven L. Gersen
Publisher: Springer Science & Business Media
ISBN: 9781592598335
Release Date: 2008-08-17
Genre: Medical

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.

The Principles of Clinical Cytogenetics

Author: Steven L. Gersen
Publisher: Humana PressInc
ISBN: UOM:39015059178320
Release Date: 2005
Genre: Medical

In this thoroughly revised and expanded edition of a highly praised classic, 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. State-of-the-art and readily accessible, The Principles of Clinical Cytogenetics, 2nd 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 AGT Cytogenetics Laboratory Manual

Author: Marilyn S. Arsham
Publisher: John Wiley & Sons
ISBN: 9781119061229
Release Date: 2017-04-24
Genre: Science

Cytogenetics is a segment of the evolving cytogenomic branch of genetics that explores the genetic makeup of a cell, in particular chromosomes both in metaphase and in interphase cycles, as well as at the molecular level. It utilizes an assortment of procedures to illuminate both the full complement of chromosomes and a targeted region within a specific chromosome. These investigative tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization 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 treatment of the diagnostic tests offered by this clinical laboratory environment and explains the scientific theories behind those procedures. 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 that reflect the intuitive experience of its authors. 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; 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 with a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the multiple facets behind each of these procedures. Topic coverage is rich in detail, yet presented with the student in mind, making it a useful resource for researchers, clinicians, and laboratory professionals, as well as students in a university or medical school that offers introductory or laboratory-related courses exploring cytogenetics' role within medical genetics. Reviews for the third edition: "A collection of protocols and explanations for cytogenetic techniques from the common to the peculiar." "An excellent book. Looking forward to an updated version."

Human Cytogenetics

Author: John L. Hamerton
Publisher: Academic Press
ISBN: 9781483266954
Release Date: 2013-10-22
Genre: Health & Fitness

Human Cytogenetics: Clinical Cytogenetics, Volume II presents the general theoretical principles and clinical aspects of cytogenetics, a branch of genetics that deals specifically with the study of the chromosomes. The volume focuses on the clinical cytogenetics of human. It discusses the sex chromosomes and their abnormalities and the abnormalities of sexual development and differentiation; mechanism of sex determination in mammals; major autosomal abnormalities found in human populations; and chromosome abnormalities in relation to human pregnancy wastage and chromosome changes in neoplasia. The book will be a great reference book for geneticists, cytogeneticists, pathologists, clinicians, and medical students.

Atlas of Hematopathology

Author: Faramarz Naeim
Publisher: Academic Press
ISBN: 9780123851840
Release Date: 2012-12-31
Genre: Medical

As the definitive diagnostic atlas of the diseases of the hematopoietic system, the Atlas of Hematopathology appeals to a wide range of people who are being trained in a variety of medical fields or practicing as non-hematopathologists, and therefore, are looking for a book which can provide information in a clear, focused format, with no excessive text or details. The atlas offers effective guidance in evaluating specimens from the lymph nodes, bone marrow, spleen, and peripheral blood, enabling clinicians to deliver more accurate and actionable pathology reports. Practicing physicians and those in pathology and hematology training also gain a better understanding of the nature of hematologic disorders and improve their diagnostic skills along the way. Taking a unique multi-disciplinary approach, the book covers conventional histopathology and cytopathology, as well as all important complementary diagnostic tests, such as immunophenotyping (immunohistochemical stains and flow cytometry), karyotyping, FISH and DNA/molecular studies. It offers concise textual and extensive visual coverage of both neoplastic and non-neoplastic hematology disorders, with the neoplastic hematology sections presented according to the most recent WHO classifications. There is also an introduction to the normal structures of hematopoietic tissues and the various multidisciplinary techniques. The atlas contains more than 900 high-quality color images that mirror the findings that fellows and clinicians encounter in practice. It provides information in a quick, simple and user-friendly manner, attracting those who are in training or are not considered experts in the field. Residents, fellows, practicing clinicians, and researchers in pathology, hematology, hematology/oncology, as well as graduate students in pathology and other clinicians workings in clinical hematology laboratories will all find it useful. Saves clinicians and researchers time in quickly accessing the very latest details on the diverse clinical and scientific aspects of hematopathology, as opposed to searching through thousands of journal articles For clinicians, fellows, and residents, correct diagnosis (and therefore correct treatment) of diseases depends on a strong understanding of the molecular basis for the disease – hematologists, pathologists, oncologists, and other clinicians will benefit from this clear, focused, annotated format Companion web site features over 900 images from the book!

Molecular Genetic Pathology

Author: Liang Cheng
Publisher: Springer Science & Business Media
ISBN: 1597454052
Release Date: 2010-01-01
Genre: Medical

Examines the clinical areas of molecular biology, genomics, pharmacogenomics and proteomics. This book covers the molecular areas of medical genetics, microbiology, hematology, transfusion medicine, oncology and forensic pathology. It is suitable for practicing pathologists and medical geneticists.

Cytogenetics FISH and Molecular Testing in Hematologic Malignancies

Author: Wojciech Gorczyca
Publisher: Informa Health Care
ISBN: 0415420091
Release Date: 2008-08-01
Genre: Medical

Cytogenetics, fluorescence in situ hybridization (FISH) and molecular tests, especially polymerase chain reaction (PCR), play an important role in the management of patients with hematologic malignancies by helping to establish the diagnosis, as well as predict prognosis, response to treatment and disease progression. Chromosomal and molecular abnormalities provide the most reliable criteria for classification of hematopoietic tumors and often comprise the basis for targeted therapy. Cytogenetics, FISH and Molecular Testing in Hematologic Malignancies, provides a review of chromosomal and molecular changes in hematologic malignancies and correlates the karyotypic and genetic abnormalities with morphology, immunophenotype and clinical data. With over 180 figures and diagnostic algorithms, this text is essential reading for all pathologists, hematopathologists, hematologic oncologists, cytogenetists, cytogenetic technologists and cell biologists.

Cancer Cytogenetics

Author: John Swansbury
Publisher: Springer Science & Business Media
ISBN: 9781592593637
Release Date: 2003
Genre: Medical

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.

Molecular Cytogenetics

Author: Yao-Shan Fan
Publisher: Springer Science & Business Media
ISBN: 9781592593002
Release Date: 2002
Genre: Science

Describes in step-by-step style the leading FISH techniques and those molecular technologies beyond FISH available for diagnostic services in genetics and oncology. The methods include labeling FISH probes for DNA and RNA targets, fluorescence genotyping, CGH microarray, spectral karyotyping/multicolor FISH, and primed in situ labeling. There are also techniques for multicolor fiber FISH, multi-telomere FISH, prenatal diagnosis using maternal blood, and preimplantation diagnosis. Oncological methods include simultaneous fluorescence immunophenotyping and FISH for leukemia and lymphoma, HER2 amplification in breast cancer, and CAC/PAC for cancer cytogenetics.

Cytogenetic Abnormalities

Author: S. Zneimer
Publisher: John Wiley & Sons
ISBN: 9781118412565
Release Date: 2014-08-21
Genre: Science

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.

Analyzing Chromosomes

Author: Barbara H Czepulkowski
Publisher: Springer
ISBN: 0387916091
Release Date: 2001-01-01
Genre: Science

Analyzing Chromosomes is a user-friendly guide for anyone new to the techniques of cytogenetics as well as for experienced researchers in need of a reliable reference. It focuses on the essential information needed to recognize different chromosomes using a variety of methods, and provides practical guidance for the use of these techniques in the laboratory. Detailed, step-by-step generic protocols are given and suggestions for modification of the techniques are provided. Attention is also focused on obtaining results, data interpretation and possible sources of errors and artifacts.

Genomic Medicine

Author: Dhavendra Kumar
Publisher: Oxford University Press (UK)
ISBN: 9780199896028
Release Date: 2014
Genre: Medical

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Medical Genetics

Author: Ian D Young
Publisher: Oxford University Press
ISBN: 9780199594610
Release Date: 2010-09-02
Genre: Education

Medical Genetics provides medical and biomedical students with an understanding of the basic principles of human genetics as they relate to clinical practice, showing how our genome lies at the heart of our health and well-being.