Benign & Pathological Chromosomal Imbalances: Microscopic And Submicroscopic Copy Number Variations (cnvs) In Genetics And Counseling

 ( Book Product ) 

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

• Benign & Pathological Chromosomal Imbalances: Microscopic And Submicroscopic Copy Number Variations (cnvs) In Genetics And Counseling available on August 17 2018 from VitalSource for itemprop="offers" target="_external" title="" itemscope itemtype="http://schema.org/Offer">107.23
  
• ISBN bar code 9780124046849 ξ2 registered April 02 2017
  
• ISBN bar code 9780124046849 ξ1 registered September 19 2015
  
• Product category is Book

• Sku # 9780124046849
  

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

^ Thomas Liehr (2013). Benign & Pathological Chromosomal Imbalances: Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling ISBN 9780124046849 (revised Mar 2017)
^ Benign & Pathological Chromosomal Imbalances: Microscopic And Submicroscopic Copy Number Variations (cnvs) In Genetics And Counseling VitalSource. ISBN 9780124046849 (revised Aug 2018)