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  1. Home
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  3. The Consequences of Chromosome Imbalance
  • Cited by 187
Publisher:
Cambridge University Press
Online publication date:
October 2009
Print publication year:
1986
Online ISBN:
9780511529702
DOI:
https://doi.org/10.1017/CBO9780511529702
Subjects:
Life Sciences, Medicine, Pediatrics and Child Health, Cell Biology and Developmental Biology
Series:
Developmental and Cell Biology Series (18)
Information

Book description

This book considers 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 behavioural problems and malignancy. 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.

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