Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS.
As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment.
Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy.
Rezensionen / Stimmen
"This volume systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants...deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment." --Anticancer Research 34, 2014
"Liehr...surveys the current knowledge of variation in the human genome, including the increasing number of alterations that seem to have no phenotypic consequences - a phenomenon once thought rare if not impossible. Focusing on cytogenetically visible copy number variants (CG-CNVs), he considers what the norm is, inheritance, formation, types, and their role on genetic diagnostics and counseling." --Reference & Research Book News, December 2013
Sprache
Verlagsort
Verlagsgruppe
Elsevier Science Publishing Co Inc
Zielgruppe
Für Beruf und Forschung
Clinical Cytogeneticists, genetic technologists, supervisors and lab directors, as well as related health professionals seeking to review or contribute to chromosomal analysis and reporting
Produkt-Hinweis
Illustrationen
Approx. 100 illustrations
Maße
Höhe: 236 mm
Breite: 156 mm
Dicke: 20 mm
Gewicht
ISBN-13
978-0-12-404631-3 (9780124046313)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Klassifikation
A graduate of the Friedrich-Alexander University of Erlangen, Germany, Thomas Liehr became head of the Molecular Cytogenetic group at the Institute of Human Genetics in Jena in 1998. He is a molecular cytogeneticist with a research interest and more than 800 publications on inherited and acquired marker and derivative chromosomes, karyotype evolution, epigenetics including uniparental disomy, interphase architecture, heterochromatin, and probe set developments. In addition to being in the Editorial Board of the Journal of Histochemistry and Cytochemistry, Dr. Liehr is on the Editorial Board of 16 other journals including the European Journal of Medical Genetics (EJMG) and Oncology Letters. Also, he is the Editor of the online journal Molecular Cytogenetics and has edited seven special issues for different journals. He is a past recipient of the Research Award for Young Scientists of the Friedrich-Schiller University, Jena, invited professor and honorary doctor at Yerevan State University, Armenia, and invited professor at Belgrade Medical School, Serbia. Also, he received the Golden Medal of the Yerevan State University in 2014, Golden Medal of the Research Center for Medical Genetics in 2019, and Medal in memory of Prof. Yuri Yurov in 2019 (see also http://cs-tl.de/TL.html).
Autor*in
Professor, Friedrich-Schiller University of Jena, Germany
1. Introduction2. Inheritance of CG-CNV3. CG-CNV and Tumor4. Formation of CG-CNV5. Types of CG-CNV6. CG-CNV in Genetic Diagnostics and Counseling7. Online ResourcesReferencesIndex
