LEADER 04822nam 22004935 450 001 9910253910803321 005 20230126001410.0 010 $a981-10-3035-9 024 7 $a10.1007/978-981-10-3035-2 035 $a(CKB)3710000001127505 035 $a(DE-He213)978-981-10-3035-2 035 $a(MiAaPQ)EBC4832530 035 $a(PPN)199765316 035 $a(EXLCZ)993710000001127505 100 $a20170328d2017 u| 0 101 0 $aeng 135 $aurnn#008mamaa 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aHuman Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis /$fby Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk 205 $a2nd ed. 2017. 210 1$aSingapore :$cSpringer Singapore :$cImprint: Springer,$d2017. 215 $a1 online resource (XX, 490 p. 87 illus., 29 illus. in color.) 311 $a981-10-3034-0 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aIntroduction -- Chromosome Heteromorphism -- Frequencies of Heteromorphisms -- Clinical Populations -- Euchromatic Variants -- Chromosome Heteromorphism (Summaries)- Fragile Sites -- Chromosome Variation Detected by Fluorescent In Situ Hybridization (FISH) -- Array-Comparative Genomic Hybridization/Microarray Analysis: Interpretation of Copy Number variants -- A CNV Catalog -- Gene and Genome Sequencing: Interpreting Genetic Variation at the Nucleotide Level. . 330 $aThis new edition now titled ?Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis? provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ?Atlas of Human Chromosome Heteromorphism?, and ?Human Chromosome Variation: Heteromorphism and Polymorphism? have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes. 606 $aMedical genetics 606 $aGeneral practice (Medicine) 606 $aGene Function$3https://scigraph.springernature.com/ontologies/product-market-codes/B12030 606 $aGeneral Practice / Family Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/H24003 615 0$aMedical genetics. 615 0$aGeneral practice (Medicine). 615 14$aGene Function. 615 24$aGeneral Practice / Family Medicine. 676 $a611.01816 700 $aWyandt$b Herman Edwin$f1939-$4aut$4http://id.loc.gov/vocabulary/relators/aut$01747461 702 $aWilson$b Golder$4aut$4http://id.loc.gov/vocabulary/relators/aut 702 $aTonk$b Vijay S$4aut$4http://id.loc.gov/vocabulary/relators/aut 906 $aBOOK 912 $a9910253910803321 996 $aHuman Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis$94179562 997 $aUNINA