Genetic Counseling

1. Front Matter

   Pages I-XIII

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2. Appearances Deceive

   • Walter Fuhrmann, Friedrich Vogel

   Pages 1-11

3. Recording a Family Medical History or Pedigree

   • Walter Fuhrmann, Friedrich Vogel

   Pages 12-16

4. The Autosomal Dominant Mode of Inheritance

   • Walter Fuhrmann, Friedrich Vogel

   Pages 17-24

5. New Mutations and Phenocopies

   • Walter Fuhrmann, Friedrich Vogel

   Pages 25-36

6. The Autosomal Recessive Mode of Inheritance and Tests for the Detection of Heterozygotes

   • Walter Fuhrmann, Friedrich Vogel

   Pages 37-53

7. Sex-Linked Modes of Inheritance

   • Walter Fuhrmann, Friedrich Vogel

   Pages 54-59

8. Chromosome Aberrations

   • Walter Fuhrmann, Friedrich Vogel

   Pages 60-79

9. Malformations Not Subject to a Simple Mode of Inheritance

   • Walter Fuhrmann, Friedrich Vogel

   Pages 80-90

10. Prenatal Diagnosis

    • Walter Fuhrmann, Friedrich Vogel

    Pages 91-94

11. Other Diseases Without a Simple Mode of Inheritance

    • Walter Fuhrmann, Friedrich Vogel

    Pages 95-98

12. Oligophrenia and Mental Illness

    • Walter Fuhrmann, Friedrich Vogel

    Pages 99-107

13. The Genetic Prognosis for a Consanguinous Marriage

    • Walter Fuhrmann, Friedrich Vogel

    Pages 108-115

14. Exposure to Mutagenic Noxes

    • Walter Fuhrmann, Friedrich Vogel

    Pages 116-120

15. Teratogenic Effects During Early Pregnancy

    • Walter Fuhrmann, Friedrich Vogel

    Pages 121-123

16. The Human Element

    • Walter Fuhrmann, Friedrich Vogel

    Pages 124-128

17. Back Matter

    Pages 129-138

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viii From discussions with our colleagues, we know that they recognize the problems and worry about them, but simply do not have the time to thoroughly study the highly specialized genetic literature available. This book is an attempt to fill this void. We have made an effort to keep it as short and clear as possible and to limit it to the important and most frequent genetic abnor­ malities. In particular, we have tried to take into consid­ eration the difficulties of the average student in under­ standing genetic logic and to eliminate the most common errors. This guide is not designed to provide more than basic information. No reader will arise from the study of this volume as an expert genetic counselor. That requires, in this as in all other sciences, knowledge of the highly spe­ cialized literature as well as extensive experience. Some geneticists therefore take the position that the general practitioner (or specialist in any other field of medicine) cannot possibly give proper genetic counsel to his patients. Because he is not a genetics expert, he should, without exception, refer all such cases to the geneticist. This point of view would condemn this guide as potentially more harmful than helpful in that it might increase the cases of well-meaning error as well as encouraging those who are not competent in this field to deal with problems which are beyond their capacity. We, obviously, do not share this pessimistic standpoint.

• Mutation
• chromosome
• counseling
• genetics
• medicine
• mutagen
• patients
• prenatal diagnosis

• Institut für Humangenetik, Giessen, West Germany

  Walter Fuhrmann

• Institut für Anthropologie und Humangenetik, Heidelberg, West Germany

  Friedrich Vogel

Policies and ethics