Benign Pathological Chromosomal Imbalances Microscopic and Submicroscopic Copy Number Variations CNVs in Genetics and Counseling 1st Edition by Thomas Liehr ISBN 0124046312 9780124046313

Benign Pathological Chromosomal Imbalances Microscopic and Submicroscopic Copy Number Variations CNVs in Genetics and Counseling 1st Edition by Thomas Liehr – Ebook PDF Instant Download/Delivery:0124046312, 9780124046313
Full download Benign Pathological Chromosomal Imbalances Microscopic and Submicroscopic Copy Number Variations CNVs in Genetics and Counseling 1st Edition after payment

Product details: 

ISBN 10: 0124046312 

ISBN 13: 9780124046313

Author: Thomas Liehr

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.

Table of contents: 

Chapter 1. Introduction
Abstract
1.1 The Problem
1.2 Frequency and Chromosomal Origin of cytogenetically visible copy number variants (CG-CNVs) without Clinical Consequences
1.3 Practical Meaning of CG-CNVs in Diagnostics and Research
1.4 Submicroscopic CNVs (MG-CNVs)
Chapter 2. CG-CNVs: What Is the Norm?
Abstract
2.1 Acrocentric Chromosomes’ Short Arm Variants
2.2 Variants of the Centromeric Regions
2.3 Variants of Noncentromeric Heterochromatin
2.4 Unbalanced Chromosome Abnormalities (UBCAs) without Clinical Consequences
2.5 Small Supernumerary Marker Chromosomes (sSMCs)
2.6 Euchromatic Variants (EVs)
2.7 Gonosomal Derived Chromatin
2.8 MG-CNVs
Chapter 3. Inheritance of CG-CNVs
Abstract
3.1 Familial CG-CNVs
3.2 De Novo CG-CNVs
3.3 MG-CNVs
Chapter 4. Formation of CG-CNVs
Abstract
4.1 Acrocentric Chromosomes’ Short-Arm Variants
4.2 Variants of the Centromeric Regions
4.3 Variants of Noncentromeric Heterochromatin
4.4 Unbalanced Chromosome Abnormalities (UBCAs)
4.5 Small Supernumerary Marker Chromosomes (SSMCs)
4.6 Euchromatic Variants (EVs)
4.7 Gonosomal-Derived Chromatin
4.8 MG-CNVs
Chapter 5. Types of CG-CNVs

People also search for:

a benign condition

a chromosomal abnormality is named

what is a chromosomal abnormalities

benign pathology meaning

benign pathology 

Tags:

Thomas Liehr,Pathological,Chromosomal