Harper Practical Genetic Counselling

3. Auflage 2013
ISBN: 978-1-4831-8366-4
Verlag: Elsevier Science & Techn.
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 316 Seiten, Web PDF

Practical Genetic Counselling, Third Edition presents the progress in the field of medical genetics. This book covers the broad area of congenital malformation syndromes and dysmorphology. Organized into three parts encompassing 26 chapters, this edition begins with an overview of the main steps in the process of genetic counselling. This text then examines how a Mendelian inheritance may be established by a combination of clinical diagnosis. Other chapters consider the risks in specific groups of chromosomal disorders. This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. The final chapter deals with how genetic counselling is contributing to reducing the general burden of genetic disease in the population. This book is a valuable resource for geneticists, neurologists, clinicians, pediatricians, and obstetricians. Readers who are interested to know about genetic disorders will also find this book useful.

Autoren/Hrsg.

Harper, Peter S.

Inhaltsverzeichnis

1;Front Cover;1
2;Practical Genetic Counselling ;4
3;Copyright Page ;5
4;Table of Contents;10
5;Preface to third edition;6
6;Preface to second edition;7
7;Preface to first edition;8
8;Part I: General aspects of genetic counselling;12
8.1;Chapter 1. Genetic counselling: an introduction;14
8.1.1;The development of genetic counselling;14
8.1.2;Constructing a family tree;15
8.1.3;Diagnostic information;18
8.1.4;Risks and odds;20
8.1.5;The estimation of risks;21
8.1.6;'Directive' genetic counselling;24
8.1.7;Genetic counselling 'by proxy';25
8.1.8;The back-up to genetic counselling;25
8.1.9;References;27
8.1.10;Further reading;27
8.2;Chapter 2. Genetic counselling in mendelian disorders;29
8.2.1;Autosomal dominant inheritance;32
8.2.2;Homozygosity in autosomal dominant disease;36
8.2.3;Autosomal recessive inheritance;37
8.2.4;Consanguinity;40
8.2.5;Other problems with autosomal recessive disease;41
8.2.6;Marriages between two affected individuals;42
8.2.7;X-linked disease;43
8.2.8;The recognition of X-linkage;45
8.2.9;The risk of being a carrier for an X-linked disorder;48
8.2.10;The isolated case of an X-linked disorder;50
8.2.11;References;52
8.3;Chapter 3. Genetic counselling in non-mendelian disorders;53
8.3.1;Empiric risk data;53
8.3.2;The basis of 'multifactorial' inheritance;54
8.3.3;General risks in non-mendelian disorders;56
8.3.4;The identification of specific genetic factors in common diseases;58
8.3.5;References;59
8.3.6;Further reading;59
8.4;Chapter 4. Chromosomal abnormalities;60
8.4.1;Chromosomal terminology;60
8.4.2;Frequency of chromosomal abnormalities in the population;63
8.4.3;The trisomies;64
8.4.4;References;73
8.4.5;Further reading;73
8.5;Chapter 5. The molecular approach to genetic disorders;74
8.5.1;The main steps in DNA analysis;74
8.5.2;Clinical applications;78
8.5.3;Carrier detection;81
8.5.4;DNA techniques and therapy for genetic disorders;82
8.5.5;References;83
8.5.6;Further reading;83
8.6;Chapter 6. Dysmorphology and genetic syndromes;84
8.6.1;Definitions;84
8.6.2;The diagnostic approach to the dysmorphic child;85
8.6.3;Syndrome diagnosis and clinical management;86
8.6.4;The aetiological basis of malformation syndromes;86
8.6.5;Genetic recurrence risks in malformation syndromes;88
8.6.6;Computerized databases;89
8.6.7;Further reading;90
8.7;Chapter 7. Carrier detection;91
8.7.1;What is a carrier?;91
8.7.2;Obligatory and possible carriers;92
8.7.3;Carrier detection in autosomal recessive disease;93
8.7.4;Autosomal dominant inheritance;96
8.7.5;X-linked disorders;98
8.7.6;Methods of carrier detection;99
8.7.7;References;102
8.8;Chapter 8. Prenatal diagnosis;104
8.8.1;The criteria and indications for prenatal diagnosis;104
8.8.2;Amniocentesis;106
8.8.3;Chorion biopsy;109
8.8.4;Chromosomal disorders;109
8.8.5;Neural tube defects;112
8.8.6;X-linked disorders;114
8.8.7;Inborn errors of metabolism (see also Chapter 22);114
8.8.8;Prenatal prediction by genetic linkage;117
8.8.9;Ultrasound in prenatal diagnosis;118
8.8.10;Fetoscopy;119
8.8.11;Twins and prenatal diagnosis;120
8.8.12;Maternal aspects of genetic counselling in pregnancy;120
8.8.13;References;121
8.8.14;Further reading;122
8.9;Chapter 9. Special problems in genetic counselling;123
8.9.1;Consanguinity;123
8.9.2;Multiple consanguinity;129
8.9.3;Inbred populations;130
8.9.4;Paternity and non-paternity;131
8.9.5;Twins;133
8.9.6;Legal problems in medical genetics;134
8.9.7;References;135
8.9.8;Further reading;135
8.10;Chapter 10. The genetic counselling clinic;136
8.10.1;General aspects;136
8.10.2;The genetic counselling service;138
8.10.3;Non-medical staff and genetic counselling;139
8.10.4;Counselling after stillbirth and termination of pregnancy;141
8.10.5;The back-up to genetic counselling;141
8.10.6;Genetic registers;145
8.10.7;Reference;147
8.10.8;Further reading;147
9;Part II: Specific organ systems;148
9.1;Chapter 11. Neuromuscular disease;150
9.1.1;Muscular dystrophies;150
9.1.2;Becker (late onset X-linked) dystrophy;153
9.1.3;Other progressive muscle dystrophies (see Table 11.1);154
9.1.4;Congenital myopathies (Table 11.2);154
9.1.5;Metabolic myopathies;155
9.1.6;Myotonic dystrophy;155
9.1.7;Other myotonic syndromes (Table 11.5);156
9.1.8;Hyperpyrexic myopathy (malignant hyperpyrexia);157
9.1.9;Myasthenia gravis;157
9.1.10;Spinal muscular atrophies;157
9.1.11;Motor neurone disease;158
9.1.12;Möbius' syndrome;158
9.1.13;Peroneal muscular atrophy (Charcot–Marie–Tooth disease, hereditary motor-sensory neuropathy);158
9.1.14;Other hereditary neuropathies;159
9.1.15;References;159
9.1.16;Further reading;159
9.2;Chapter 12. Central nervous system and psychiatric disorders;160
9.2.1;Huntington's disease;160
9.2.2;Multiple sclerosis;164
9.2.3;Syringomyelia;164
9.2.4;Parkinson's disease;164
9.2.5;Other involuntary movement disorders;165
9.2.6;Narcolepsy;165
9.2.7;The hereditary ataxias;166
9.2.8;Hereditary spastic paraplegia;166
9.2.9;Senile and presenile dementias;166
9.2.10;Migraine;167
9.2.11;Neurofibromatosis;167
9.2.12;Von Hippel–Lindau syndrome;168
9.2.13;Tuberous sclerosis;168
9.2.14;Epilepsy;169
9.2.15;Cerebral aneurysms;170
9.2.16;Dyslexia;170
9.2.17;Cerebral palsy;170
9.2.18;Neural tube defects;171
9.2.19;Hydrocephalus;172
9.2.20;Encephalocele;173
9.2.21;Microcephaly;173
9.2.22;Holoprosencephaly;173
9.2.23;Agenesis of corpus callosum;173
9.2.24;Cerebral gigantism (Sotos' syndrome);173
9.2.25;Mental retardation;174
9.2.26;Normal intelligence;179
9.2.27;Schizophrenia;179
9.2.28;Affective psychoses;180
9.2.29;Behavioural disorders;181
9.2.30;References;181
9.2.31;Further reading;183
9.3;Chapter 13. Disorders of bone and connective tissue;184
9.3.1;Primary bone dysplasias;184
9.3.2;Limb defects;188
9.3.3;Connective tissue disorders;189
9.3.4;Arthritis and arthropathies;192
9.3.5;Various skeletal syndromes;195
9.3.6;References;196
9.3.7;Further reading;197
9.4;Chapter 14. Oral and craniofacial disorders;198
9.4.1;The teeth;198
9.4.2;Cleft lip and palate;199
9.4.3;Craniofacial syndromes;201
9.4.4;References;203
9.4.5;Further reading;203
9.5;Chapter 15. The skin;204
9.5.1;Skin colour;204
9.5.2;Psoriasis;206
9.5.3;Atopic eczema;206
9.5.4;The ichthyoses {Table 15.2);207
9.5.5;Palmoplanar hyperkeratosis (tylosis);207
9.5.6;Epidermolysis bullosa;208
9.5.7;Ectodermal dysplasias;208
9.5.8;Naevi;208
9.5.9;Albinism;209
9.5.10;Vitiligo;209
9.5.11;Piebaldism;209
9.5.12;Baldness;209
9.5.13;Acanthosis nigricans;210
9.5.14;Skin tumours;210
9.5.15;References;211
9.5.16;Further reading;211
9.6;Chapter 16. The eye;212
9.6.1;Choroidoretinal degenerations;212
9.6.2;Nystagmus;214
9.6.3;Colour vision;214
9.6.4;Leber's optic atrophy (not to be confused with Leber's congenital amaurosis);215
9.6.5;Corneal dystrophies;215
9.6.6;Retinal detachment;215
9.6.7;Retinoblastoma;215
9.6.8;Nome's disease (pseudoglioma);216
9.6.9;Cataract;217
9.6.10;Lens dislocation;217
9.6.11;Glaucoma;217
9.6.12;Refractive errors;218
9.6.13;Cyclops;218
9.6.14;Microphthalmos and anophthalmos;218
9.6.15;Coloboma and aniridia;219
9.6.16;Heterochromia of the iris;219
9.6.17;Eye colour;219
9.6.18;Strabismus;219
9.6.19;Hereditary ptosis;220
9.6.20;References;220
9.6.21;Further reading;220
9.7;Chapter 17. Deafness;221
9.7.1;Severe congenital sensorineural deafness (deaf-mutism);221
9.7.2;Partial nerve deafness;223
9.7.3;Deafness as part of syndromes;224
9.7.4;The external ear;226
9.7.5;Menière's disease;226
9.7.6;Further reading;227
9.8;Chapter 18. Cardiovascular diseases;228
9.8.1;Congenital heart disease;228
9.8.2;Cardiomyopathies;233
9.8.3;Congenital conduction defects;233
9.8.4;Coronary heart disease;233
9.8.5;Hypertension;235
9.8.6;Lymphatic disorders;235
9.8.7;Rheumatic fever;236
9.8.8;Pulmonary disease;236
9.8.9;References;237
9.8.10;Further reading;237
9.9;Chapter 19. The gastrointestinal tract;238
9.9.1;Oesophageal atresia;238
9.9.2;Oesophageal cancer;238
9.9.3;Diaphragmatic hernia;239
9.9.4;Infantile pyloric stenosis;239
9.9.5;Omphalocele and gastroschisis;239
9.9.6;Bowel atresias and malrotations;240
9.9.7;Peptic ulcer;240
9.9.8;Gastric cancer;240
9.9.9;Atrophic gastritis and pernicious anaemia;241
9.9.10;Coeliac disease;241
9.9.11;Gastrointestinal enzyme defects;241
9.9.12;Intussusception;241
9.9.13;Inflammatory bowel disease;241
9.9.14;Intestinal polyposis;242
9.9.15;Colonic cancer;242
9.9.16;Hirschsprung's disease;242
9.9.17;Imperforate anus;243
9.9.18;Hereditary pancreatitis;243
9.9.19;Cystic fibrosis;243
9.9.20;Metabolic liver disease;244
9.9.21;Hyperbilirubinaemias;244
9.9.22;Biliary atresia;245
9.9.23;Polycystic disease of the liver and congenital hepatic fibrosis;245
9.9.24;Adult chronic liver disease;245
9.9.25;References;245
9.9.26;Further reading;246
9.10;Chapter 20. Renal disease;247
9.10.1;Polycystic kidney disease;247
9.10.2;Medullary cystic disease (juvenile nephronophthisis; microcystic disease);248
9.10.3;Cystic dysplasia (multicystic kidney disease);248
9.10.4;Hereditary nephropathies;249
9.10.5;Urinary tract malformations;249
9.10.6;Vesicoureteric reflux;250
9.10.7;Renal stones;250
9.10.8;Renal transport disorders;251
9.10.9;Renal tumours;251
9.10.10;References;251
9.10.11;Further reading;252
9.11;Chapter 21. Endocrine disorders;253
9.11.1;Diabetes mellitus;253
9.11.2;Endocrine deficiency disorders;255
9.11.3;Congenital hypothyroidism;256
9.11.4;Autoimmune thyroid disease;256
9.11.5;Multiple endocrine neoplasia;256
9.11.6;Congenital adrenal hyperplasia (adrenogenital syndrome);257
9.11.7;Hypogonadism (Table 21.3);257
9.11.8;Infertility;258
9.11.9;Genetic counselling and recurrent abortions;258
9.11.10;References;259
9.11.11;Further reading;260
9.12;Chapter 22. Inborn errors of metabolism;261
9.12.1;Phenylketonuria;263
9.12.2;Histidinaemia;263
9.12.3;Cystinuria;263
9.12.4;Galactosaemia;263
9.12.5;Sphingolipidoses;264
9.12.6;Glycogen storage diseases;264
9.12.7;Hyperlipidaemias (see also Chapter 18);264
9.12.8;The porphyrias;265
9.12.9;Cholinesterase deficiency;265
9.12.10;Fatty acid metabolic defects and sudden infant death;265
9.12.11;Further reading;266
9.13;Chapter 23. Blood;267
9.13.1;Disorders of haemoglobin structure and synthesis;267
9.13.2;Hereditary spherocytosis;268
9.13.3;Hereditary elliptocytosis;268
9.13.4;Glucose-6-phosphate dehydrogenase deficiency;268
9.13.5;Other red cell enzyme defects;268
9.13.6;Pernicious anaemia;269
9.13.7;Rhesus incompatibility;269
9.13.8;Hydrops fetalis;269
9.13.9;Other blood group systems;269
9.13.10;White blood cells and platelets;269
9.13.11;Immune deficiency disease;270
9.13.12;Haemophilia;271
9.13.13;Other coagulation disorders;272
9.13.14;References;272
9.13.15;Further reading;273
9.14;Chapter 24. Genetic risks in cancer;274
9.14.1;Major cancer-determining loci;274
9.14.2;Tumours following mendelian inheritance;276
9.14.3;'Cancer families';276
9.14.4;Genetic syndromes predisposing to malignancy;276
9.14.5;Embryonal and childhood cancer;277
9.14.6;Leukaemias;278
9.14.7;Lymphomas;279
9.14.8;Histiocytosis;279
9.14.9;Common cancers of later life;280
9.14.10;References;280
9.14.11;Further reading;281
9.15;Chapter 25. Environmental hazards;282
9.15.1;Congenital infections;282
9.15.2;Drugs and malformations;284
9.15.3;Genetic effects of radiation;287
9.15.4;References;288
9.15.5;Further reading;289
10;Part III: Conclusion;290
10.1;Chapter 26. Genetic counselling and society;292
10.1.1;Whom does genetic counselling reach?;293
10.1.2;The preconception clinic;293
10.1.3;What proportion of genetic disease is potentially preventable?;294
10.1.4;Will genetic counselling increase the load of deleterious genes?;296
10.1.5;Irradiation and the population;296
10.1.6;Marriage between affected individuals;297
10.1.7;Inbreeding and outbreeding;297
10.1.8;Common diseases and traits;298
10.1.9;References;299
11;Appendix: Useful information in connection with genetic counselling;300
11.1;Adoption;300
11.2;Regional genetic centres;300
11.3;Lay societies involved with inherited diseases;301
11.4;Prenatal diagnosis of metabolic disease (p. 104);304
12;Index;306