Benign & Pathological Chromosomal Imbalances
Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling
- Thomas Liehr, Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany
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.
AudienceClinical Cytogeneticists, genetic technologists, supervisors and lab directors, as well as related health professionals seeking to review or contribute to chromosomal analysis and reporting
- Published: September 2013
- Imprint: ACADEMIC PRESS
- ISBN: 978-0-12-404631-3
Table of Contents
2. Inheritance of CG-CNV
3. CG-CNV and Tumor
4. Formation of CG-CNV
5. Types of CG-CNV
6. CG-CNV in Genetic Diagnostics and Counseling
7. Online Resources