Benign and Pathological Chromosomal Imbalances

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

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