In this book, Dr. Aubrey Milunsky provides guidance for all who wish to avoid, prevent, or detect genetic disorders in their families. The author describes new advances in many genetic diseases and a cascade of DNA tests that now enable many to secure their health and even save their own lives and those of their loved ones.
In this book, Dr. Aubrey Milunsky provides guidance for all who wish to avoid, prevent, or detect genetic disorders in their families. The author describes new advances in many genetic diseases and a cascade of DNA tests that now enable many to secure their health and even save their own lives and those of their loved ones.
Aubrey Milunsky, MD, D.S.c. is Professor of Human Genetics, Pediatrics, Obstetrics and Gynecology, and Pathology, and the Director of the Center for Human Genetics, at Boston University School of Medicine.
Inhaltsangabe
* Contents * 1. Why and What You Should Know * 2. Too Many or Too Few Chromosomes * 3. X's and Y's: The Sex Chromosomes * 4. Chromosome Rearrangements * 5. Blueprints: You and Your Genes * 6. How Genes are Transmitted * 7. Prenatal Diagnosis * 8. When Good Cells Go Wrong * 9. Matters of the Heart * 10. Consequences of a Failure to Diagnose * 11. Genes Gone Missing * 12. Earlier and More Severe Genetic Disorders * 13. The Determination to Have a Healthy Child * 14. Irrevocability and Acceptance * 15. Ancestral Genetic Burdens * 16. Puzzling Fevers * 17. Bleeding and Clotting * 18. Blood Vessels that Burst * 19. Connectivity: Abnormal Brain Connections * 20. Skin: A Mirror to the Brain * 21. Genes with Signatures * 22. Maternal Inheritance and Inevitability * 23. Harmful Maternal Effects on the Fetus * 24. Patterns of Anomalies * 25. Treatment Options * 26. Sugar and Metals * 27. Obesity: A Weighty Burden * 28. Hypertension * Frequently Asked Questions * Appendix 1: Cancer Family Syndromes for which Preimplantation Genetic Diagnoses have been Performed * Appendix 2: Genetic Disorders with Germline Mosacism * Appendix 3: Disorders with Dynamic Mutations * Appendix 4: Genetic Disorders that show Anticipation * Appendix 5: Guidelines for Presymptomatic or Predictive Testing * Appendix 6: Genetic Disorders in which Dilatation of the Aorta may Occur * Appendix 7: Genetic Disorders with Imprinting * Appendix 8: Genetic Resources and Support Organizations * Index
* Contents * 1. Why and What You Should Know * 2. Too Many or Too Few Chromosomes * 3. X's and Y's: The Sex Chromosomes * 4. Chromosome Rearrangements * 5. Blueprints: You and Your Genes * 6. How Genes are Transmitted * 7. Prenatal Diagnosis * 8. When Good Cells Go Wrong * 9. Matters of the Heart * 10. Consequences of a Failure to Diagnose * 11. Genes Gone Missing * 12. Earlier and More Severe Genetic Disorders * 13. The Determination to Have a Healthy Child * 14. Irrevocability and Acceptance * 15. Ancestral Genetic Burdens * 16. Puzzling Fevers * 17. Bleeding and Clotting * 18. Blood Vessels that Burst * 19. Connectivity: Abnormal Brain Connections * 20. Skin: A Mirror to the Brain * 21. Genes with Signatures * 22. Maternal Inheritance and Inevitability * 23. Harmful Maternal Effects on the Fetus * 24. Patterns of Anomalies * 25. Treatment Options * 26. Sugar and Metals * 27. Obesity: A Weighty Burden * 28. Hypertension * Frequently Asked Questions * Appendix 1: Cancer Family Syndromes for which Preimplantation Genetic Diagnoses have been Performed * Appendix 2: Genetic Disorders with Germline Mosacism * Appendix 3: Disorders with Dynamic Mutations * Appendix 4: Genetic Disorders that show Anticipation * Appendix 5: Guidelines for Presymptomatic or Predictive Testing * Appendix 6: Genetic Disorders in which Dilatation of the Aorta may Occur * Appendix 7: Genetic Disorders with Imprinting * Appendix 8: Genetic Resources and Support Organizations * Index
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