"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 developmentUniquely 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 investigateSide-by-side
comparison of copy number variants with their recently identified
submicroscopic form, aiding technology assessment using aCGH and
other techniques
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