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Benign and Pathological Chromosomal Imbalances


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Useful 'how-to' handbook for clinical geneticists and molecular cytogeneticists to identify copy number variants with benign and pathologic consequences, providing an inexpensive jumping-off point for targeted technology-driven investigation

Table of Contents

1. Introduction 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 References Index


"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

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