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  • Open Daily: 10am - 10pm
    Alley-side Pickup: 10am - 7pm

    3038 Hennepin Ave Minneapolis, MN
    612-822-4611

Open Daily: 10am - 10pm | Alley-side Pickup: 10am - 7pm
3038 Hennepin Ave Minneapolis, MN
612-822-4611
Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

Wyandt, Herman E.
Wilson, Golder N.
Tonk, Vijay S.

Hardcover

Medical Reference

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ISBN10: 9811030340
ISBN13: 9789811030345
Publisher: Springer Nature
Published: Apr 7 2017
Pages: 490
Weight: 2.31
Height: 1.34 Width: 6.48 Depth: 9.54
Language: English
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 genomic or population databases.

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