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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.
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
