Human Chromosome Variation: Heteromorphism and Polymorphism
1st Edition
Published on 20. August 2011
XIX, 215 pages
978-94-007-0896-9 (ISBN)
Description
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 updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and "not-so-normal" variations of the human karyotype with summaries and extensive reference lists organized by chromosome number. This updated edition features concise background information on chromosome methods and applications, essential information on heteromorphism frequencies in normal and clinical populations as well as new listing and discussions of euchromatic, subtelomeric and FISH variants. The addition of two new sections make this an even more valuable reference than before. A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization. A new section on array CGH discusses the clinical challenge of interpreting copy number variations (CNVs) revealed by this newest technology, gives examples of various levels of interpretation and lists the several most common websites used in this interpretation.
More details
Series
Language
English
Place of publication
Dordrecht
Netherlands
Publishing group
Springer Netherland
Target group
Professional and scholarly
Product notice
Reflowable
Illustrations
XIX, 215 p.
File size
8,34 MB
ISBN-13
978-94-007-0896-9 (9789400708969)
DOI
10.1007/978-94-007-0896-9
Schweitzer Classification
Other editions
Additional editions
Herman E. Wyandt | Vijay S. Tonk
Human Chromosome Variation: Heteromorphism and Polymorphism
Book
11/2014
Springer
€203.29
Article exhausted; check for reprint
Herman E. Wyandt | Vijay S. Tonk
Human Chromosome Variation: Heteromorphism and Polymorphism
Book
10/2011
Springer
€179.98
Article exhausted; check for reprint
Content
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 interpretationof 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
