Benign and Pathological Chromosomal Imbalances : Microscopic and Submicroscopic Copy Number Variations (CNVs) in Genetics and Counseling /

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...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Liehr, Thomas, 1965- (Autor)
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam : Elsevier/AP, [2014]
Temas:
Genetics.
Variation (Biology)
Chromosome abnormalities.
Genetic counseling.
DNA Copy Number Variations
Genetics
Chromosome Aberrations
Genetic Counseling
G�en�etique.
Variation (Biologie)
Aberrations chromosomiques.
Conseil g�en�etique.
genetics.
HEALTH & FITNESS > Diseases > General.
MEDICAL > Clinical Medicine.
MEDICAL > Diseases.
MEDICAL > Evidence-Based Medicine.
MEDICAL > Internal Medicine.
Genetic counseling
Chromosome abnormalities
Internet Resources.
Acceso en línea:Texto completo
Tabla de Contenidos:
  • Front Cover; Benign and Pathological Chromosomal Imbalances
  • Microscopic and SubmicroscopicCopy Number Variations (CNVs) inGenetics and Counseling; Copyright; DISCLAIMER; CONTENTS; BIOGRAPHY; ABBREVIATIONS; FOREWORD; ACKNOWLEDGMENTS; 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 REGIONS2.3. 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 4A.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.

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