Introduction to Risk Calculation in Genetic

Genetic counseling is widely accepted as an integral part of the management of every patient with an inherited disorder, and the rapid developments in human and medical genetics have reinforced the importance of competency in risk calculation. Fully updated since the first edition (1991) this book provides a simple introduction for risk calculation for genetics counseling,, describing how risks can easily be estimated or calculated for most counseling situations. Easy-to-use, with worked examples, this book covers all patterns of inheritance. In this second edition, Introduction to Risk Calculation in Genetic Counseling now includes a chapter on cancer genetics, and there are also new sections on anticipation, gonadal mosaicism, the potential use of susceptibility loci, three-way chromosome translocations and meiotic drive.

Genetic counseling and the laws of probability

1

(15)

Genetic counseling and the concept of risk

1

(2)

The laws of probability

3

(3)

The binomial distribution

6

(4)

Bayes' theorem

10

(5)

Autosomal dominant inheritance

15

(21)

Reduced penetrance

15

(8)

Variable expression

23

(1)

Disorders with late onset

24

(3)

Parents have two different autosomal dominant disorders

27

(2)

Parents have the same autosomal dominant disorder

29

(2)

Affected siblings born to healthy parents

31

(3)

Anticipation

34

(2)

Autosomal recessive inheritance

36

(24)

Hardy---Weinberg equilibrium

36

(2)

Risk to the offspring of a healthy sibling

38

(2)

Risks to the extended family

40

(2)

Risks to the offspring of an affected homozygote

42

(3)

Two brothers marry two sisters

45

(1)

Siblings with different autosomal recessive disorders

46

(1)

Allowing for separate mutations

47

(4)

Consanguinity

51

(5)

Direct mutation analysis and multiple alleles

56

(4)

Sex-linked recessive inheritance

60

(22)

The prior probability that any female is a carrier of a sex-linked recessive disorder

61

(1)

The probability that the mother of an isolated case is a carrier

62

(1)

The carrier risks for female relatives of an isolated case

63

(8)

Different mutation rates in males and females

71

(4)

Biological fitness is greater than zero

75

(4)

Germinal (gonadal) mosaicism

79

(3)

The use of linked DNA markers

82

(27)

Basic principles of genetic linkage

82

(2)

Autosomal dominant inheritance

84

(3)

Autosomal recessive inheritance

87

(5)

Sex-linked recessive inheritance

92

(3)

Using information from flanking markers

95

(3)

Disorders with late onset

98

(3)

Parental genotypes not known

101

(3)

Linkage disequilibrium

104

(2)

Linkage heterogeneity

106

(3)

Polygenic and multifactorial inheritance

109

(13)

Polygenic inheritance and the Normal distribution

110

(2)

The liability/threshold model

112

(1)

General principles in counseling for multifactorial disorders

113

(2)

Computer program for risk estimation

115

(2)

The use of susceptibility loci

117

(3)

A philosophical postscript

120

(2)

Cancer genetics

122

(11)

General principles in cancer risk assessment

122

(3)

Risk assessment using empiric epidemiological data

125

(2)

Risk assessment assuming Mendelian inheritance

127

(4)

A cautionary caveat

131

(2)

Balanced chromosome rearrangements

133

(28)

Reciprocal translocations

135

(10)

Robertsonian translocations

145

(4)

Three way translocations

149

(2)

Pericentric inversions

151

(4)

Paracentric inversions

155

(2)

Insertions

157

(1)

Rearrangements involving an X chromosome

158

(3)

Other mechanisms of inheritance

161

(23)

Sex-linked dominant inheritance

161

(1)

Sex-linked dominant inheritance with male lethality

162

(1)

Sex-linked dominant inheritance with unaffected males

163

(1)

Metabolic interference

163

(1)

Digenic inheritance

164

(1)

Uniparental disomy and imprinting

165

(4)

Somatic crossing-over

169

(1)

Germinal (gonadal) mosaicism

169

(3)

Meiotic drive

172

(1)

Mitochondrial inheritance

172

(12)

References

175

(9)

Appendix

184

(34)

A1 Overlapping Normal distributions

184

(2)

A2 Germinal mosaicism

186

(20)

A3 Length of prometaphase chromosome segments

206

(12)

Index

218

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Introduction to Risk Calculation in Genetic Counseling

Summary

Table of Contents

Supplemental Materials