Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances

Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling

1st Edition - August 31, 2013

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  • Author: Thomas Liehr
  • eBook ISBN: 9780124046849
  • Hardcover ISBN: 9780124046313

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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.

Key Features

  • 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

Table of Contents

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    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

    2.8 MG-CNVs

    Chapter 3. Inheritance of CG-CNVs


    3.1 Familial CG-CNVs

    3.2 De Novo CG-CNVs

    3.3 MG-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

    4.8 MG-CNVs

    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


    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



    Color Plates

Product details

  • No. of pages: 220
  • Language: English
  • Copyright: © Academic Press 2013
  • Published: August 31, 2013
  • Imprint: Academic Press
  • eBook ISBN: 9780124046849
  • Hardcover ISBN: 9780124046313

About the Author

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

Affiliations and Expertise

Professor, Friedrich-Schiller University of Jena, Germany

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