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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.
List of contents
Preface; Glossary; Part I. Introduction: 1. The problem of aneuploidy; Part II. Clinical Observations: 2. The differentiability and variability of phenotypes; 3. The partitioning of phenotypes; Part III. The Theoretical Mechanisms and Issues: The Primary and Secondary Effects of Aneuploidy: 4. Gene dosage effects; 5. Metabolic pathways, transport systems and receptors; 6. Regulatory systems; 7. Assembly of macromolecules, cellular interactions and pattern formation; 8. Type and countertype; 9. Nonspecific effects of aneuploidy; Part IV. Experimental Systems for the Study of Mammalian and Human Aneuploidy: 10. Generation and properties of mouse aneuploids; 11. Models for human aneuploidy; Part V. Three Major Clinical Problems of Human Aneuploidy: 12. Trisomy 21 (Down syndrome); 13. Monosomy X (Turner syndrome, gonadal dysgenesis); 14. Cancer; Part VI. Conclusion: 15. Principles, mechanisms and models; Appendix; References; Index.
Summary
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.
