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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
Chapter 1. Introduction
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?
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
Chapter 3. Inheritance of CG-CNVs
3.1 Familial CG-CNVs
3.2 De Novo CG-CNVs
Chapter 4. Formation of CG-CNVs
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
Chapter 5. Types of CG-CNVs
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
6.1 CG-CNVs in Diagnostics
6.2 CG-CNVs and MG-CNVs in Reporting and Genetic Counseling
Chapter 7. Online Resources
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.25 Short Analysis of the Summary of CG-CNVs by Chromosome
- No. of pages:
- © Academic Press 2014
- 25th September 2013
- Academic Press
- Hardcover ISBN:
- eBook ISBN:
Dr. Liehr is a Professor at the Friedrich-Schiller University of Jena, Germany. A graduate of the Friedrich-Alexander University of Erlangen, Germany, he became head of the Molecular Cytogenetic group at the Institute of Human Genetics in Jena in 1998. He is a cytogeneticist with a research interest and over 350 publications on inherited and acquired marker and derivative chromosomes, karyotype evolution, epigenetics including uniparental disomy, interphase architecture and probe set-developments. In addition to being in the Editorial Board of The Journal of Histochemistry & Cytochemistry Dr. Liehr is on the Editorial Board of seven other journals including the European Journal of Medical Genetics (EJMG) and Oncology Letters. Also he is Editor of the online journal Molecular Cytogenetics. He is a past recipient of the research award for young scientists of the Friedrich-Schiller University Jena.
Group Leader, Institute of Human GeneticsGroup Leader, Institute of Human Genetics
"This volume systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants…deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment."--Anticancer Research 34, 2014
"Liehr…surveys the current knowledge of variation in the human genome, including the increasing number of alterations that seem to have no phenotypic consequences — a phenomenon once thought rare if not impossible. Focusing on cytogenetically visible copy number variants (CG-CNVs), he considers what the norm is, inheritance, formation, types, and their role on genetic diagnostics and counseling."--Reference & Research Book News, December 2013
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