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Human Chromosome Variation: Heteromorphism and Polymorphism (Record no. 18641)

000 -LEADER
fixed length control field 04948nam a22004815i 4500
003 - CONTROL NUMBER IDENTIFIER
control field OSt
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20140310150250.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr nn 008mamaa
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 110818s2012 ne | s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9789400708969
978-94-007-0896-9
050 #4 - LIBRARY OF CONGRESS CALL NUMBER
Classification number QH441.5
082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER
Classification number 611.01816
Edition number 23
264 #1 -
-- Dordrecht :
-- Springer Netherlands :
-- Imprint: Springer,
-- 2012.
912 ## -
-- ZDB-2-SBL
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Wyandt, Herman E.
Relator term author.
245 10 - IMMEDIATE SOURCE OF ACQUISITION NOTE
Title Human Chromosome Variation: Heteromorphism and Polymorphism
Medium [electronic resource] /
Statement of responsibility, etc by Herman E. Wyandt, Vijay S. Tonk.
300 ## - PHYSICAL DESCRIPTION
Extent XIX, 215p. 79 illus., 35 illus. in color.
Other physical details online resource.
505 0# - FORMATTED CONTENTS NOTE
Formatted contents note 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  .
520 ## - SUMMARY, ETC.
Summary, etc 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.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element Medicine.
Topical term or geographic name as entry element Human genetics.
Topical term or geographic name as entry element Medical genetics.
Topical term or geographic name as entry element DNA microarrays.
Topical term or geographic name as entry element Biotechnology.
Topical term or geographic name as entry element Biomedicine.
Topical term or geographic name as entry element Cytogenetics.
Topical term or geographic name as entry element Human Genetics.
Topical term or geographic name as entry element Gene Function.
Topical term or geographic name as entry element Microarrays.
Topical term or geographic name as entry element Biotechnology.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tonk, Vijay S.
Relator term author.
710 2# - ADDED ENTRY--CORPORATE NAME
Corporate name or jurisdiction name as entry element SpringerLink (Online service)
773 0# - HOST ITEM ENTRY
Title Springer eBooks
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Display text Printed edition:
International Standard Book Number 9789400708952
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier http://dx.doi.org/10.1007/978-94-007-0896-9
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Source of classification or shelving scheme
Item type E-Book
Copies
Price effective from Permanent location Date last seen Not for loan Date acquired Source of classification or shelving scheme Koha item type Damaged status Lost status Withdrawn status Current location Full call number
2014-04-08AUM Main Library2014-04-08 2014-04-08 E-Book   AUM Main Library611.01816
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