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| Genetic Counseling and the Laws of Probability | |
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| Genetic Counseling and the Concept of Risk | |
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| The Laws of Probability | |
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| The Binomial Distribution | |
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| Bayes' Theorem | |
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| Case Scenario | |
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| Autosomal Dominant Inheritance | |
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| Reduced Penetrance | |
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| Disorders with Late Onset (Age-Dependent Penetrance) | |
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| Variable Expression | |
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| Parents Have Two Different Autosomal Dominant Disorders | |
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| Parents Have the Same Autosomal Dominant Disorder | |
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| Affected Siblings Born to Unaffected Parents | |
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| Anticipation | |
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| Autosomal Recessive Inheritance | |
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| Hardy-Weinberg Equilibrium | |
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| Risk to the Offspring of a Healthy Sibling | |
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| Risks to the Extended Family | |
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| Risks to the Offspring of an Affected Homozygote | |
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| Two Brothers Marry Two Sisters | |
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| Siblings with Different Autosomal Recessive Disorders | |
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| Allowing for Separate Mutations | |
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| Consanguinity | |
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| Direct Mutation Analysis and Multiple Alleles | |
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| Case Scenario | |
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| X-Linked Recessive Inheritance | |
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| The Prior Probability That a Female Is a Carrier of an X-Linked Recessive Disorder | |
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| The Probability That the Mother of an Isolated Case Is a Carrier | |
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| The Carrier Risks for Female Relatives of an Isolated Case | |
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| Different Mutation Rates in Males and Females | |
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| Biological Fitness Is Greater Than Zero | |
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| Case Scenario | |
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| The Use of Linked DNA Markers | |
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| Basic Principles of Genetic Linkage | |
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| Autosomal Dominant Inheritance | |
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| Autosomal Recessive Inheritance | |
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| X-Linked Recessive Inheritance | |
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| Using Information from Flanking Markers | |
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| Disorders with Late Onset | |
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| Parental Genotypes Not Known | |
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| Linkage Disequilibrium | |
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| Linkage Heterogeneity | |
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| Case Scenario | |
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| Germline Mosaicism | |
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| What is Germline Mosaicism? | |
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| A Simplified Model of Gametogenesis | |
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| Applying This Simple Model | |
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| Risk Estimates for Use in Counseling | |
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| Case Scenario 1 | |
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| Case Scenario 2 | |
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| Polygenic and Multifactorial Inheritance | |
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| Polygenic Inheritance and the Normal Distribution | |
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| The Liability/Threshold Model | |
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| General Principles in Counseling for Multifactorial Disorders | |
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| Computer Program for Risk Estimation | |
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| The Use of Susceptibility Loci | |
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| Cancer Genetics | |
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| Breast Cancer | |
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| Colorectal Cancer | |
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| Balanced Chromosome Rearrangements | |
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| Reciprocal Translocations | |
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| Robertsonian Translocations | |
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| Three-Way Translocations | |
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| Pericentric Inversions | |
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| Paracentric Inversions | |
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| Insertions | |
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| Rearrangements Involving an X Chromosome | |
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| Case Scenario | |
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| Other Mechanisms of Inheritance | |
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| X-Linked Dominant Inheritance | |
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| X-Linked Dominant Inheritance with Male Lethality | |
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| X-Linked Dominant Inheritance with Male Sparing | |
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| Metabolic Interference | |
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| Digenic Inheritance | |
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| Uniparental Disomy and Imprinting | |
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| Somatic Crossing-Over | |
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| Meiotic Drive | |
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| Mitochondrial Inheritance | |
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| References | |
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| Appendices | |
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| Ultrasound and Prenatal Diagnosis | |
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| Overlapping Normal Distributions | |
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| Length of Prometaphase Chromosome Segments | |
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| Index | |