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Edward S. Tobias is Professor of Genetic Medicine (Medical Genetics), School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, and Honorary Consultant in Medical Genetics, West of Scotland Genetic Services, Southern General Hospital, Glasgow, UK.
Inhaltsangabe
Abbreviations Glossary Preface Part I. General Principles of Medical Genetics: Introduction Normal human inheritance Types of genetic disease Chromosomal disorders Single-gene disorders Multifactorial (or part-genetic) disorders Somatic cell (or cumulative) genetic disorders Drawing the family tree Interpreting the family tree DNA analysis Chromosome analysis Preimplantation genetic diagnosis (PGD) Cell-free fetal DNA testing Referral for genetic assessment and counselling Part II. Common Genetic Problems in Obstetric and Gynaecological Practice: Introduction Genetic causes of infertility Genetic causes of recurrent miscarriages Elevated maternal screening risk Cystic fibrosis Family history Reference Part III. Clinical Case Scenarios: Introduction Case 1. Unexpected finding at amniocentesis Case 2. Lethal short-limbed skeletal dysplasia Case 3. Family history of Down syndrome Case 4. Family history of Huntington disease Case 5. Family history of Duchenne muscular dystrophy Case 6. Unexplained high level of maternal serum alphafetoprotein (MSAFP) Case 7. Family history of siblings with Goldenhar syndrome Case 8. Family history of microcephaly Case 9. Unexpected finding at amniocentesis Case 10. Family history of Down syndrome Case 11. Importance of genetic ancestry Case 12. Never say never Case 13. Unexpected finding at amniocentesis Case 14. Inherited limb abnormality Case 15. Multiple congenital abnormalities Case 16. Family history of cystic fibrosis Case 17. Previous obstetric history of trisomy 13 Case 18. Previous obstetric history of hydrocephalus Case 19. Maternal congenital heart disease Case 20. Family history of neonatal myotonic dystrophy Case 21. Unexpected finding at amniocentesis Case 22. Previous obstetric history of a fetus with multiple congenital malformations Case 23. Accidental X-ray in early pregnancy Case 24. Genetic mimicry Case 25. Previous obstetric history of an intrauterine death with cystic hygroma Case 26. Where possible verify the diagnosis Case 27. Beware of variable expressivity Case 28. Provision of patient-appropriate literature for rare conditions Case 29. Searching for online sources of specialist information regarding rare genetic conditions Appendix. Guide to online sources of genetic information Clinical information Patient support groups Further reading Index.
Abbreviations Glossary Preface Part I. General Principles of Medical Genetics: Introduction Normal human inheritance Types of genetic disease Chromosomal disorders Single-gene disorders Multifactorial (or part-genetic) disorders Somatic cell (or cumulative) genetic disorders Drawing the family tree Interpreting the family tree DNA analysis Chromosome analysis Preimplantation genetic diagnosis (PGD) Cell-free fetal DNA testing Referral for genetic assessment and counselling Part II. Common Genetic Problems in Obstetric and Gynaecological Practice: Introduction Genetic causes of infertility Genetic causes of recurrent miscarriages Elevated maternal screening risk Cystic fibrosis Family history Reference Part III. Clinical Case Scenarios: Introduction Case 1. Unexpected finding at amniocentesis Case 2. Lethal short-limbed skeletal dysplasia Case 3. Family history of Down syndrome Case 4. Family history of Huntington disease Case 5. Family history of Duchenne muscular dystrophy Case 6. Unexplained high level of maternal serum alphafetoprotein (MSAFP) Case 7. Family history of siblings with Goldenhar syndrome Case 8. Family history of microcephaly Case 9. Unexpected finding at amniocentesis Case 10. Family history of Down syndrome Case 11. Importance of genetic ancestry Case 12. Never say never Case 13. Unexpected finding at amniocentesis Case 14. Inherited limb abnormality Case 15. Multiple congenital abnormalities Case 16. Family history of cystic fibrosis Case 17. Previous obstetric history of trisomy 13 Case 18. Previous obstetric history of hydrocephalus Case 19. Maternal congenital heart disease Case 20. Family history of neonatal myotonic dystrophy Case 21. Unexpected finding at amniocentesis Case 22. Previous obstetric history of a fetus with multiple congenital malformations Case 23. Accidental X-ray in early pregnancy Case 24. Genetic mimicry Case 25. Previous obstetric history of an intrauterine death with cystic hygroma Case 26. Where possible verify the diagnosis Case 27. Beware of variable expressivity Case 28. Provision of patient-appropriate literature for rare conditions Case 29. Searching for online sources of specialist information regarding rare genetic conditions Appendix. Guide to online sources of genetic information Clinical information Patient support groups Further reading Index.
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