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Consequences of Chromosome Imbalance Principles, Mechanisms, and Models

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ISBN-10: 052103809X

ISBN-13: 9780521038096

Edition: 2007

Authors: Charles J. Epstein

List price: $96.00
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Description:

This is the first book to consider in detail the mechanisms of a major human problem. Chromosome imbalance affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioral problems and malignancy. In The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models, Charles J. Epstein concerns himself with how and why a particular chromosome imbalance produces a specific phenotype. His fundamental goal is to connect chromosome aberrations with functional abnormalities in terms of gene expression, developmental and cell biology, and metabolism. Through his examination of this relationship, we learn more about normal development and function. The…    
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Book details

List price: $96.00
Copyright year: 2007
Publisher: Cambridge University Press
Publication date: 7/26/2007
Binding: Paperback
Pages: 512
Size: 6.10" wide x 9.21" long x 0.98" tall
Weight: 1.562
Language: English

Preface
Glossary
Introduction
The problem of aneuploidy
Clinical Observations
The differentiability and variability of phenotypes
The partitioning of phenotypes
The Theoretical Mechanisms and Issues: The Primary and Secondary Effects of Aneuploidy
Gene dosage effects
Metabolic pathways, transport systems, and receptors
Regulatory systems
Assembly of macromolecules, cellular interactions, and pattern formation
Type and countertype
Nonspecific effects of aneuploidy
Experimental Systems for the Study of Mammalian and Human Aneuploidy
Generation and properties of mouse aneuploids
Models for human aneuploidy
Three Major Clinical Problems of Human Aneuploidy
Trisomy 21 (down syndrome)
Monosomy X (turner syndrome, gonadal dysgenesis)
Cancer
Conclusion
Principles, mechanisms, and models
Appendix
References
Index