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Practical genetic counselling /
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...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London ; Boston :
Wright,
1988.
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| Edición: | 3rd ed. |
| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- ""Front Cover""; ""Practical Genetic Counselling ""; ""Copyright Page ""; ""Table of Contents""; ""Preface to third edition""; ""Preface to second edition""; ""Preface to first edition""; ""Part I: General aspects of genetic counselling""; ""Chapter 1. Genetic counselling: an introduction""; ""The development of genetic counselling""; ""Constructing a family tree""; ""Diagnostic information""; ""Risks and odds""; ""The estimation of risks""; ""'Directive' genetic counselling""; ""Genetic counselling 'by proxy'""; ""The back-up to genetic counselling""; ""References""; ""Further reading""
- ""Chapter 2. Genetic counselling in mendelian disorders""""Autosomal dominant inheritance""; ""Homozygosity in autosomal dominant disease""; ""Autosomal recessive inheritance""; ""Consanguinity""; ""Other problems with autosomal recessive disease""; ""Marriages between two affected individuals""; ""X-linked disease""; ""The recognition of X-linkage""; ""The risk of being a carrier for an X-linked disorder""; ""The isolated case of an X-linked disorder""; ""References""; ""Chapter 3. Genetic counselling in non-mendelian disorders""; ""Empiric risk data""
- ""The basis of 'multifactorial' inheritance""""General risks in non-mendelian disorders""; ""The identification of specific genetic factors in common diseases""; ""References""; ""Further reading""; ""Chapter 4. Chromosomal abnormalities""; ""Chromosomal terminology""; ""Frequency of chromosomal abnormalities in the population""; ""The trisomies""; ""References""; ""Further reading""; ""Chapter 5. The molecular approach to genetic disorders""; ""The main steps in DNA analysis""; ""Clinical applications""; ""Carrier detection""; ""DNA techniques and therapy for genetic disorders""
- ""Methods of carrier detection""""References""; ""Chapter 8. Prenatal diagnosis""; ""The criteria and indications for prenatal diagnosis""; ""Amniocentesis""; ""Chorion biopsy""; ""Chromosomal disorders""; ""Neural tube defects""; ""X-linked disorders""; ""Inborn errors of metabolism (see also Chapter 22)""; ""Prenatal prediction by genetic linkage""; ""Ultrasound in prenatal diagnosis""; ""Fetoscopy""; ""Twins and prenatal diagnosis""; ""Maternal aspects of genetic counselling in pregnancy""; ""References""; ""Further reading""; ""Chapter 9. Special problems in genetic counselling""