Details

The Principles of Clinical Cytogenetics

2nd ed. 2005

von: Steven L. Gersen, Martha B. Keagle
149,79 €
Verlag:	Humana Press
Format:	PDF
Veröffentl.:	17.08.2008
ISBN/EAN:	9781592598335
Sprache:	englisch
Anzahl Seiten:	596

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Beschreibungen

Titelbeschreibung

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.

Inhaltsverzeichnis

Basic Concepts and Background.- History of Clinical Cytogenetics.- DNA, Chromosomes, and Cell Division.- Human Chromosome Nomenclature.- Examining and Analyzing Chromosomes.- Basic Laboratory Procedures.- The Fundamentals of Microscopy.- Quality Control and Quality Assurance.- Instrumentation in the Cytogenetics Laboratory.- Clinical Cytogenetics.- Autosomal Aneuploidy.- Structural Chromosome Rearrangements.- Sex Chromosomes and Sex Chromosome Abnormalities.- Cytogenetics of Infertility.- Prenatal Cytogenetics.- Cytogenetics of Spontaneous Abortion.- Chromosome Instability.- Cancer Cytogenetics.- Cytogenetics of Hematologic Neoplasms.- Cytogenetics of Solid Tumors.- Fluorescence In Situ Hybridization.- Fluorescence In Situ Hybridization.- Beyond Chromosomes.- Fragile X.- Genomic Imprinting and Uniparental Disomy.- Genetic Counseling.

Back cover copy

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. <BR>
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.