Benign and Pathological Chromosomal Imbalances

Microscopic and Submicroscopic Copy Number Variations (Cnvs) in Genetics and Counseling
Erscheinungsjahr 2013
ISBN: 978-0-12-404631-3
Verlag: Elsevier Science

Buch, Englisch, 220 Seiten, Format (B × H): 156 mm x 236 mm, Gewicht: 516 g

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.

Zielgruppe

<p>Clinical Cytogeneticists, genetic technologists, supervisors and lab directors, as well as related health professionals seeking to review or contribute to chromosomal analysis and reporting</p>

Autoren/Hrsg.

Liehr, Thomas

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie
• Technische Wissenschaften Verfahrenstechnik | Chemieingenieurwesen | Biotechnologie Biotechnologie Medizinische Biotechnologie

Inhaltsverzeichnis

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

Über Autor(innen)

Liehr, Thomas
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).