Human Chromosome Variation: Heteromorphism and Polymorphism

Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title "Atlas of Human Chromosome Heteromorphism". The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised ve...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autores principales: Wyandt, Herman E. (Autor), Tonk, Vijay S. (Autor)
Autor Corporativo: SpringerLink (Online service)
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Dordrecht : Springer Netherlands : Imprint: Springer, 2012.
Edición:1st ed. 2012.
Temas:
Molecular genetics.
Medical genetics.
Bioinformatics.
Biotechnology.
Molecular Genetics.
Medical Genetics.
Computational and Systems Biology.
Acceso en línea:Texto Completo
Tabla de Contenidos:
  • 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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