Introduction to Risk Calculation in Genetic Counseling
3rd Edition
Published on 16. October 2006
252 pages
978-0-19-974830-3 (ISBN)
Description
The process of genetic counseling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder. For most physicians and counselors, the mathematics and statistics involved can be major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear, reader-friendly guide, Ian Young addresses this problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and key points in order to guide the reader to an accurate assessment of the risk of genetic disease. It primarily will appeal to genetic counselors, geneticists, and all those involved in providing medical genetic services. In this new edition, Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters, and he has included more working examples, a popular feature of the book.
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10/2006
3rd Edition
Oxford University Press Inc
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Content
- Intro
- Contents
- 1. Genetic Counseling and the Laws of Probability
- 1.1 Genetic Counseling and the Concept of Risk
- 1.2 The Laws of Probability
- 1.3 The Binomial Distribution
- 1.4 Bayes' Theorem
- 1.5 Case Scenario
- 2. Autosomal Dominant Inheritance
- 2.1 Reduced Penetrance
- 2.2 Disorders with Late Onset (Age-Dependent Penetrance)
- 2.3 Variable Expression
- 2.4 Parents Have Two Different Autosomal Dominant Disorders
- 2.5 Parents Have the Same Autosomal Dominant Disorder
- 2.6 Affected Siblings Born to Unaffected Parents
- 2.7 Anticipation
- 3. Autosomal Recessive Inheritance
- 3.1 Hardy-Weinberg Equilibrium
- 3.2 Risk to the Offspring of a Healthy Sibling
- 3.3 Risks to the Extended Family
- 3.4 Risks to the Offspring of an Affected Homozygote
- 3.5 Two Brothers Marry Two Sisters
- 3.6 Siblings with Different Autosomal Recessive Disorders
- 3.7 Allowing for Separate Mutations
- 3.8 Consanguinity
- 3.9 Direct Mutation Analysis and Multiple Alleles
- 3.10 Case Scenario
- 4. X-Linked Recessive Inheritance
- 4.1 The Prior Probability That a Female Is a Carrier of an X-Linked Recessive Disorder
- 4.2 The Probability That the Mother of an Isolated Case Is a Carrier
- 4.3 The Carrier Risks for Female Relatives of an Isolated Case
- 4.4 Different Mutation Rates in Males and Females
- 4.5 Biological Fitness Is Greater Than Zero
- 4.6 Case Scenario
- 5. The Use of Linked DNA Markers
- 5.1 Basic Principles of Genetic Linkage
- 5.2 Autosomal Dominant Inheritance
- 5.3 Autosomal Recessive Inheritance
- 5.4 X-Linked Recessive Inheritance
- 5.5 Using Information from Flanking Markers
- 5.6 Disorders with Late Onset
- 5.7 Parental Genotypes Not Known
- 5.8 Linkage Disequilibrium
- 5.9 Linkage Heterogeneity
- 5.10 Case Scenario
- 6. Germline Mosaicism
- 6.1 What is Germline Mosaicism?
- 6.2 A Simplied Model of Gametogenesis
- 6.3 Applying This Simple Model
- 6.4 Risk Estimates for Use in Counseling
- 6.5 Case Scenario 1
- 6.6 Case Scenario 2
- 7. Polygenic and Multifactorial Inheritance
- 7.1 Polygenic Inheritance and the Normal Distribution
- 7.2 The Liability/Threshold Model
- 7.3 General Principles in Counseling for Multifactorial Disorders
- 7.4 Computer Program for Risk Estimation
- 7.5 The Use of Susceptibility Loci
- 8. Cancer Genetics
- 8.1 Breast Cancer
- 8.2 Colorectal Cancer
- 9. Balanced Chromosome Rearrangements
- 9.1 Reciprocal Translocations
- 9.2 Robertsonian Translocations
- 9.3 Three-Way Translocations
- 9.4 Pericentric Inversions
- 9.5 Paracentric Inversions
- 9.6 Insertions
- 9.7 Rearrangements Involving an X Chromosome
- 9.8 Case Scenario
- 10. Other Mechanisms of Inheritance
- 10.1 X-Linked Dominant Inheritance
- 10.2 X-Linked Dominant Inheritance with Male Lethality
- 10.3 X-Linked Dominant Inheritance with Male Sparing
- 10.4 Metabolic Interference
- 10.5 Digenic Inheritance
- 10.6 Uniparental Disomy and Imprinting
- 10.7 Somatic Crossing-Over
- 10.8 Meiotic Drive
- 10.9 Mitochondrial Inheritance
- References
- Appendices
- A1 Ultrasound and Prenatal Diagnosis
- A2 Overlapping Normal Distributions
- A3 Length of Prometaphase Chromosome Segments
- Index
- A
- B
- C
- D
- E
- F
- G
- H
- I
- K
- L
- M
- N
- O
- P
- R
- S
- T
- U
- V
- W
- X
