|
Genetic counseling and the laws of probability |
|
|
1 | (15) |
|
Genetic counseling and the concept of risk |
|
|
1 | (2) |
|
|
3 | (3) |
|
The binomial distribution |
|
|
6 | (4) |
|
|
10 | (5) |
|
Autosomal dominant inheritance |
|
|
15 | (21) |
|
|
15 | (8) |
|
|
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) |
|
|
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) |
|
|
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) |
|
|
104 | (2) |
|
|
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) |
|
|
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) |
|
|
131 | (2) |
|
Balanced chromosome rearrangements |
|
|
133 | (28) |
|
Reciprocal translocations |
|
|
135 | (10) |
|
Robertsonian translocations |
|
|
145 | (4) |
|
|
149 | (2) |
|
|
151 | (4) |
|
|
155 | (2) |
|
|
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) |
|
|
163 | (1) |
|
|
164 | (1) |
|
Uniparental disomy and imprinting |
|
|
165 | (4) |
|
|
169 | (1) |
|
Germinal (gonadal) mosaicism |
|
|
169 | (3) |
|
|
172 | (1) |
|
Mitochondrial inheritance |
|
|
172 | (12) |
|
|
175 | (9) |
Appendix |
|
184 | (34) |
|
A1 Overlapping Normal distributions |
|
|
184 | (2) |
|
|
186 | (20) |
|
A3 Length of prometaphase chromosome segments |
|
|
206 | (12) |
Index |
|
218 | |