| 书目名称 | Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis | | 编辑 | Herman E. Wyandt,Golder N. Wilson,Vijay S. Tonk | | 视频video | | | 概述 | Is the first book with comprehensive listing of both heteromorphisms and microarray changes (microdeletions, microduplications) that allows genetic lab directors and/or clinical geneticists/counselors | | 图书封面 |  | | 描述 | This 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 | | 出版日期 | Book 2017Latest edition | | 关键词 | Chromosome Variation; Microarray; Polymorphism; Heteromorphism; Fragile site | | 版次 | 2 | | doi | https://doi.org/10.1007/978-981-10-3035-2 | | isbn_softcover | 978-981-10-9770-6 | | isbn_ebook | 978-981-10-3035-2 | | copyright | Springer Nature Singapore Pte Ltd. 2017 |
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发表于 2025-3-21 17:54:46
