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The Consequences of Chromosome Imbalance


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Table 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.

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This book considers chromosome imbalance which affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioural problems and malignancy.

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