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