Introduction to risk calculation in genetic counseling:
Saved in:
| Main Author: | |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Oxford
Oxford Univ. Press
1999
|
| Edition: | 2. ed. |
| Series: | Oxford medical publications
|
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | VIII, 220 S. graph. Darst. |
| ISBN: | 019262962X |
Staff View
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| 245 | 1 | 0 | |a Introduction to risk calculation in genetic counseling |c Ian D. Young |
| 250 | |a 2. ed. | ||
| 264 | 1 | |a Oxford |b Oxford Univ. Press |c 1999 | |
| 300 | |a VIII, 220 S. |b graph. Darst. | ||
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| 650 | 4 | |a Risk assessment | |
| 650 | 4 | |a Mathematisches Modell | |
| 650 | 4 | |a Genetic Counseling | |
| 650 | 4 | |a Genetic counseling | |
| 650 | 4 | |a Genetic disorders |x Risk factors |x Mathematical models | |
| 650 | 4 | |a Health risk assessment | |
| 650 | 4 | |a Probabilities | |
| 650 | 4 | |a Risk Assessment | |
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Record in the Search Index
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| adam_text | Contents
1 Genetic counseling and the laws of probability 1
1.1 Genetic counseling and the concept of risk 1
1.2 The laws of probability 3
1.3 The binomial distribution 6
1.4 Bayes theorem 10
2 Autosomal dominant inheritance 15
2.1 Reduced penetrance 15
2.2 Variable expression 23
2.3 Disorders with late onset 24
2.4 Parents have two different autosomal dominant disorders 27
2.5 Parents have the same autosomal dominant disorder 29
2.6 Affected siblings born to healthy parents 31
2.7 Anticipation 34
3 Autosomal recessive inheritance 36
3.1 Hardy Weinberg equilibrium 36
3.2 Risk to the offspring of a healthy sibling 38
3.3 Risks to the extended family 40
3.4 Risks to the offspring of an affected homozygote 42
3.5 Two brothers marry two sisters 45
3.6 Siblings with different autosomal recessive disorders 46
3.7 Allowing for separate mutations 47
3.8 Consanguinity 51
3.9 Direct mutation analysis and multiple alleles 56
4 Sex linked recessive inheritance 60
4.1 The prior probability that any female is a carrier of
a sex linked recessive disorder 61
4.2 The probability that the mother of an isolated case is a carrier 62
4.3 The carrier risks for female relatives of an isolated case 63
4.4 Different mutation rates in males and females 71
4.5 Biological fitness is greater than zero 75
4.6 Germinal (gonadal) mosaicism 79
5 The use of linked DNA markers 82
5.1 Basic principles of genetic linkage 82
5.2 Autosomal dominant inheritance 84
5.3 Autosomal recessive inheritance 87
5.4 Sex linked recessive inheritance 92
5.5 Using information from flanking markers 95
5.6 Disorders with late onset 98
5.7 Parental genotypes not known 101
5.8 Linkage disequilibrium 104
5.9 Linkage heterogeneity 106
6 Polygenic and multifactorial inheritance 109
6.1 Polygenic inheritance and the Normal distribution 110
6.2 The liability/threshold model 112
6.3 General principles in counseling for multifactorial disorders 113
6.4 Computer program for risk estimation 115
6.5 The use of susceptibility loci 117
6.6 A philosophical postscript 120
7 Cancer genetics 122
7.1 General principles in cancer risk assessment 122
7.2 Risk assessment using empiric epidemiological data 125
7.3 Risk assessment assuming Mendelian inheritance 127
7.4 A cautionary caveat 131
8 Balanced chromosome rearrangements 133
8.1 Reciprocal translocations 135
8.2 Robertsonian translocations 145
8.3 Three way translocations 149
8.4 Pericentric inversions 151
8.5 Paracentric inversions 155
8.6 Insertions 157
8.7 Rearrangements involving an X chromosome 158
9 Other mechanisms of inheritance 161
9.1 Sex linked dominant inheritance 161
9.2 Sex linked dominant inheritance with male lethality 162
9.3 Sex linked dominant inheritance with unaffected males 163
9.4 Metabolic interference 163
9.5 Digenic inheritance 164
9.6 Uniparental disomy and imprinting 165
9.7 Somatic crossing over 169
9.8 Germinal (gonadal) mosaicism 169
9.9 Meiotic drive 172
9.10 Mitochondrial inheritance 172
References 175
Appendix 184
A1 Overlapping Normal distributions 184
A2 Germinal mosaicism 186
A3 Length of prometaphase chromosome segments 206
Index 218
|
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| indexdate | 2024-07-09T19:11:20Z |
| institution | BVB |
| isbn | 019262962X |
| language | English |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-010203597 |
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| physical | VIII, 220 S. graph. Darst. |
| publishDate | 1999 |
| publishDateSearch | 1999 |
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| publisher | Oxford Univ. Press |
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| spelling | Young, Ian D. Verfasser aut Introduction to risk calculation in genetic counseling Ian D. Young 2. ed. Oxford Oxford Univ. Press 1999 VIII, 220 S. graph. Darst. txt rdacontent n rdamedia nc rdacarrier Oxford medical publications Genetisch advies gtt Medical genetics Risicoanalyse gtt Risk assessment Mathematisches Modell Genetic Counseling Genetic counseling Genetic disorders Risk factors Mathematical models Health risk assessment Probabilities Risk Assessment HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=010203597&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Young, Ian D. Introduction to risk calculation in genetic counseling Genetisch advies gtt Medical genetics Risicoanalyse gtt Risk assessment Mathematisches Modell Genetic Counseling Genetic counseling Genetic disorders Risk factors Mathematical models Health risk assessment Probabilities Risk Assessment |
| title | Introduction to risk calculation in genetic counseling |
| title_auth | Introduction to risk calculation in genetic counseling |
| title_exact_search | Introduction to risk calculation in genetic counseling |
| title_full | Introduction to risk calculation in genetic counseling Ian D. Young |
| title_fullStr | Introduction to risk calculation in genetic counseling Ian D. Young |
| title_full_unstemmed | Introduction to risk calculation in genetic counseling Ian D. Young |
| title_short | Introduction to risk calculation in genetic counseling |
| title_sort | introduction to risk calculation in genetic counseling |
| topic | Genetisch advies gtt Medical genetics Risicoanalyse gtt Risk assessment Mathematisches Modell Genetic Counseling Genetic counseling Genetic disorders Risk factors Mathematical models Health risk assessment Probabilities Risk Assessment |
| topic_facet | Genetisch advies Medical genetics Risicoanalyse Risk assessment Mathematisches Modell Genetic Counseling Genetic counseling Genetic disorders Risk factors Mathematical models Health risk assessment Probabilities Risk Assessment |
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