Medical Genetics

CORE PRINCIPLES: Pedigree Construction. Autosomal Dominant Inheritance: Treacher Collins Syndrome. Autosomal Recessive Inheritance: Cystic Fibrosis. X-Linked Recessive Inheritance: Haemophilia A, Colour Blindness. Chromosomal: Down, Turner, Klinefelter Syndromes. Cancer Genetics: Inerited Breast Cancer. Mitochondrial Disorders. Part Genetic Disorders: Neural Tube Defects, IDDM, Cleft Lip CORE PRACTICE: Genetic Counselling: Referral Letters, Genetic Investigations, The Genetic Clinic, Breaking Bad News. Genetic Databases and the Internet as Sources of Information. Clinical Examination and Signs in Genetic Disorders. Family History of Dementia, Huntingdon Disease. Family History of Adult Muscular Dystrophy: Becker MD. Family History of Childhood Muscular Dystrophy: Duchenne MD. Family History of Premature Vascular Disease. Family History of Cystic Fibrosis. Family History of Breast Cancer. Family History of Colon Cancer. Family History of Mental Handicap: Fragile X. Family History of Diabetes. Congenital Abnormalities: Limb Defects, Multiple Congenital Abnormalities. Carrier Screening: Cystic Fibrosis, Sickle Cell Disease, Thallassaemias. Tay Sachs Disease. Prenatal Screening for Down Syndrome Inc Unexpected Findings. Prenatal Screening for Neural Tube Defects. Reproductive Failure: Miscarriages, Infertility ANSWERS: Problem Points. Ethical Points: Results of Ethical Survey and Discussion Points. Glossary of Genetic Terms