Human Chromosome Variation: Heteromorphism and Polymorphism

• Κύριοι συγγραφείς: Wyandt, Herman E. (Συγγραφέας), Tonk, Vijay S. (Συγγραφέας)
• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Dordrecht : Springer Netherlands : Imprint: Springer, 2012.
• Θέματα: Medicine.; Human genetics.; Medical genetics.; Cytogenetics.; Microarrays.; Biotechnology.; Biomedicine.; Human Genetics.; Gene Function.

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 version has...

Πίνακας περιεχομένων:

• 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  .