Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling - Hardcover

Liehr, Thomas

Hardcover

ISBN 10: 0124046312 ISBN 13: 9780124046313

Publisher: Academic Press, 2013

Synopsis

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.

• Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development
• Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate
• Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques

About this title

Review:

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

About this edition

• Publisher: Academic Press
• Publication date: 2013
• ISBN 10: 0124046312
• ISBN 13: 9780124046313
• Binding: Hardcover
• Number of pages: 220