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Human Chromosome Variation


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Table of Contents

Foreword.- Preface to Second Edition.- Acknowledgements.- List of Contributors.- A. HUMAN CHROMOSOME METHODS AND NOMENCLATURE.- 1. Introduction.- 2. Chromosome Heteromorphism.- 2.1 Chromosome Banding Techniques and Mechanisms.- 2.2 Other DNA-Binding Fluorochromes.- 2.3 Sister Chromatid Exchange Staining (SCE).- 2.4 Replication Banding.- 2.5 High Resolution Banding and Special Treatments.- 2.6 Satellite DNA in Heteromorphic Regions.- 2.7 Single nucleotide polymorphisms (SNPs).- 2.8 Fluorescence In Situ Hybridization (FISH).- 3. Frequencies Of Heteromorphisms.- 3.1 By Q- and C-banding.- 3.2 Specialized Banding Studies.- 4. Clinical Populations.- 4.1 Spontaneous Abortions and Reproductive Failure.- 4.2 Non-disjunction.- 4.3 Satellite Association.- 4.4 Cancer.- 5. Euchromatic Variants.- B. CHROMOSOME HETEROMORPHISM (SUMMARIES).- Chromosome 1.- Chromosome 2.- Chromosome 3.- Chromosome 4.- Chromosome 5.- Chromosome 6.- Chromosome 7.- Chromosome 8.- Chromosome 9.- Chromosome 10.- Chromosome 11.- Chromosome 12.- Chromosome 13.- Chromosome 14.- Chromosome 15.- Chromosome 16.- Chromosome 17.- Chromosome 18.- Chromosome 19.- Chromosome 20.- Chromosome 21.- Chromosome 22.- Chromosome X.- Chromosome Y.- C. Fish Variants.- 1. FISH Results With Centromeric Repeats.- 2. Subtelomeric Deletions/Duplications: Normal Variation or Chromosome Abnormality.- D. Fragile Sites.- E. Comparative Genomic Hybridization-Microarray Analysis, Copy Number Variants, and Clinical Interpretation.- 1. Introduction.- 2. Case Discussions.- 2.1 Cases where the interpretation of clinical significance is clear and the diagnosis provides good prognostic information.- 2.2 Cases where interpretation of clinical significance is clear but the finding gives less defined prognosis.- 2.3 Cases of familial change with unclear significance or prognosis.- 3. Summary.- Index

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