Main 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.

Feature:

Only comprehensive reference on normal human chromosome variation available

Extensive photographic examples, many from personal files, are not available elsewhere

Reference material is accessible only by time-consuming research both on and off the internet

Is a historical document as well as one of current clinical relevance

Authoritative: written by America Board of Medical Genetics-certified practicing clinical cytogeneticists.

Back cover:

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.

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