Publisher: Wiley-Blackwell.

19 chapters.

332 pages.

 

Contents:

Preface. Acknowledgements. Part 1: Basic Principles. 1 Medical Genetics in Perspective. 2 Human Genome Structure and Function. 3 Nucleic Acid Structure
and Function. 4 Molecular Genetic Analysis. 5 Chromosomes. 6 Gametogenesis.
7 Chromosome Aberrations. 8 Typical Mendelian Inheritance. 9 Atypical Mendelian Inheritance. 10 Non-Mendelian Inheritance. 11 Medical Genetics in Populations. Part 2: Common Situations in Clinical Genetics. 12 Genetic Assessment, Genetic Counselling and Reproductive Options. 13 Family History of Cancer. 14 Family History of Common Adult-onset Disorder. 15 Strong Family History - Typical Mendelian Disease. 16 Strong Family History - Other Inheritance Mechanisms. 17 Screening for disease and for carriers. 18 Family History of One or More Congenital Malformations. Part 3: Electronic Databases - A User's Guide. 19 Electronic databases - A user's guide. Glossary. Index.

 

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Contents:

 

Section 1: General principles of medical genetics

• Introduction
• Normal human inheritance
• Types of genetic disease
• Drawing the family tree
• Interpreting the family tree
• DNA analysis
• Chromosome analysis
• Referral for genetic assessment and counselling

Section 2: Common genetic problems in obstetric and gynaecological practice

• Introduction
• Genetic causes of infertility
• Genetic causes of recurrent miscarriages
• Elevated maternal screening risk
• Family history

Section 3: Clinical case scenarios