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Essential Medical Genetics
Publisher: Wiley-Blackwell.
19 chapters.
332 pages.

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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Medical Genetics for the MRCOG and Beyond
Publisher: Cambridge University Press / RCOG
3 sections
121 pages.

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