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The Consequences of Chromosome Imbalance : Principles, Mechanisms, and Models - Charles J. Epstein

The Consequences of Chromosome Imbalance

Principles, Mechanisms, and Models


Published: 31st May 1986
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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 book begins with an exploration of several human autosomal aneuploid phenotypes, with particular emphasis on the relationship between genotype and phenotype. In the next part, broad theoretical considerations of the mechanisms which generate these phenotypes are examined with reference to studies on man and other organisms such as bacteria and mice. Experimental approaches to study the effects of aneuploidy are presented next with special attention paid to the development of model systems for studying human aneuploidy.

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)
Principles, mechanisms, and models
Table of Contents provided by Publisher. All Rights Reserved.

ISBN: 9780521254649
ISBN-10: 0521254647
Series: Developmental and Cell Biology Series
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 510
Published: 31st May 1986
Publisher: Cambridge University Press
Country of Publication: GB
Dimensions (cm): 22.8 x 15.2  x 3.2
Weight (kg): 0.96