Benign and Pathological Chromosomal Imbalances
Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling
- 1st Edition - September 25, 2013
- Latest edition
- Author: Thomas Liehr
- Language: English
Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenet… Read more
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 development
- Uniquely 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 investigate
- Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques
Clinical Cytogeneticists, genetic technologists, supervisors and lab directors, as well as related health professionals seeking to review or contribute to chromosomal analysis and reporting
Disclaimer
Biography
Abbreviations
Foreword
Acknowledgments
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
Abstract
5.1 Heterochromatic CG-CNVs
5.2 Euchromatic CG-CNVs
5.3 Submicroscopic CNVs (MG-CNVs)
Chapter 6. CG-CNVs in Genetic Diagnostics and Counseling
Abstract
6.1 CG-CNVs in Diagnostics
6.2 CG-CNVs and MG-CNVs in Reporting and Genetic Counseling
Chapter 7. Online Resources
Abstract
7.1 CG-CNVs
7.2 MG-CNVs
Appendix. Summary of CG-CNVs by Chromosome
A.1 Chromosome 1
A.2 Chromosome 2
A.3 Chromosome 3
A.4 Chromosome 4
A.5 Chromosome 5
A.6 Chromosome 6
A.7 Chromosome 7
A.8 Chromosome 8
A.9 Chromosome 9
A.10 Chromosome 10
A.11 Chromosome 11
A.12 Chromosome 12
A.13 Chromosome 13
A.14 Chromosome 14
A.15 Chromosome 15
A.16 Chromosome 16
A.17 Chromosome 17
A.18 Chromosome 18
A.19 Chromosome 19
A.20 Chromosome 20
A.21 Chromosome 21
A.22 Chromosome 22
A.23 X-Chromosome
A.24 Y-Chromosome
A.25 Short Analysis of the Summary of CG-CNVs by Chromosome
References
Index
Color Plates
- Edition: 1
- Latest edition
- Published: September 25, 2013
- Language: English
TL
Thomas Liehr
A graduate of the Friedrich-Alexander University of Erlangen, Germany, Thomas Liehr became head of the Molecular Cytogenetic group at the Institute of Human Genetics in Jena in 1998. He is a molecular cytogeneticist with a research interest and more than 800 publications on inherited and acquired marker and derivative chromosomes, karyotype evolution, epigenetics including uniparental disomy, interphase architecture, heterochromatin, and probe set developments. In addition to being in the Editorial Board of the Journal of Histochemistry and Cytochemistry, Dr. Liehr is on the Editorial Board of 16 other journals including the European Journal of Medical Genetics (EJMG) and Oncology Letters. Also, he is the Editor of the online journal Molecular Cytogenetics and has edited seven special issues for different journals. He is a past recipient of the Research Award for Young Scientists of the Friedrich-Schiller University, Jena, invited professor and honorary doctor at Yerevan State University, Armenia, and invited professor at Belgrade Medical School, Serbia. Also, he received the Golden Medal of the Yerevan State University in 2014, Golden Medal of the Research Center for Medical Genetics in 2019, and Medal in memory of Prof. Yuri Yurov in 2019 (see also http://cs-tl.de/TL.html).
Affiliations and expertise
Professor, Friedrich-Schiller University of Jena, GermanyRead Benign and Pathological Chromosomal Imbalances on ScienceDirect