Read e-book online Benign and Pathological Chromosomal Imbalances: Microscopic PDF

By Thomas Liehr

ISBN-10: 0124046312

ISBN-13: 9780124046313

Benign & Pathological Chromosomal Imbalances systematically clarifies the illness implications of cytogenetically obvious replica quantity editions (CG-CNV) utilizing cytogenetic evaluation of heterochromatic or euchromatic DNA editions. whereas versions of numerous megabasepair might be found in the human genome with out medical outcome, visually distinguishing those benign parts from illness implications doesn't continuously take place to practitioners conversant in expensive molecular profiling tools equivalent to FISH, aCGH, and NGS.

As technology-driven methods like FISH and aCGH have not begun to accomplish the promise of common assurance or expense efficacy to pattern investigated, deep chromosome research and molecular cytogenetics is still proper for expertise translation, examine layout, and healing assessment.

Knowledge of the infrequent yet recurrent rearrangements unusual to practitioners saves money and time for molecular cytogeneticists and genetics counselors, aiding to tell apart benign from damaging CG-CNV. It additionally helps them in finding out which molecular cytogenetics instruments to install.

  • Shows how to find the inheritance and formation of cytogenetically noticeable reproduction quantity diversifications utilizing cytogenetic and molecular techniques for genetic diagnostics, sufferer counseling, and therapy plan development
  • Uniquely classifies all recognized variations by means of chromosomal foundation, saving time and cash for researchers in reviewing benign and pathologic editions ahead of high priced molecular equipment are used to investigate
  • Side-by-side comparability of reproduction quantity editions with their lately pointed out submicroscopic shape, assisting expertise review utilizing aCGH and different techniques

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Benign and Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling by Thomas Liehr


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