TY - BOOK ID - 88193945 TI - Benign and pathological chromosomal imbalances : microscopic and submicroscopic copy number variations (CNVs) in genetics and counseling PY - 2014 SN - 9780124046849 0124046843 1299833195 9781299833197 0124046312 9780124046313 PB - San Diego, CA : Academic Press, DB - UniCat KW - Genetics KW - Genetics. KW - Variation (Biology) KW - Biological variation KW - Biology KW - Heredity KW - Mutation (Biology) KW - Embryology KW - Mendel's law KW - Adaptation (Biology) KW - Breeding KW - Chromosomes UR - https://www.unicat.be/uniCat?func=search&query=sysid:88193945 AB - 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 ER -