Really Essential Medical Genetics

Preface I General Principles of Medical Genetics I.1 Normal human inheritance I.2 Types of genetic disease I.3 Drawing the family tree I.4 Interpreting the family tree I.5 DNA analysis I.6 Chromosome analysis I.7 Sources of genetic information I.8 Referral for genetic assessment and counselling II Common Genetic Problems in Clinical Practice Presentation before or during pregnancy II.1 Infertility II.2 Recurrent miscarriages II.3 Increased risk of Down's syndrome after screening II.4 Increased risk of neural tube defect after screening II.5 Increased risk of cystic fibrosis after screening II.6 Family history of Down's syndrome II.7 Family history of neural tube defect II.8 Familiy history of cystic fibrosis II.9 Family history of muscular dystrophy II.10 Family history of major learning difficulties II.11 Family history of multiple congenital malformations Presentation in childhood II.12 Diagnosis following neonatal screening (PKU, CF, hypothyroidism, cong deafness) II.13 Congenital malformations II.14 Short stature II.15 Muscle weakness II.16 Learning difficulties (?epilepsy, neoplasia) Presentation in adulthood II17 Cancer II.18 Vascular disease II.19 Dementia II.20 Arthritis II.21 Muscle weakness (? ) III Clincal case scenarios CCS1 Family tree construction CCS2 Interpreting the family tree (several) CCS3 Unexpected findings at amniocentesis (Turners Klinefelters appt balalnced) CCS 4 Sources of genetic information (Meckels) CCS5 recurrent miscarriages in opposite side CCS More than one disease CCS Family history of Down's syndrome CCS Family history of neural tube defect in a mother CCS Familiy history of cystic fibrosis (unknown mutation) CCS Family history of muscular dystrophy (x2) CCS Family history of major learning difficultiesCCS Family history of multiple congenital malformations (examples) CCS Family history of ovarian cancer florid without mutation, grey CCS Huntington's disease and age-dependent penetrance CCS Ethics+++ CCS Haemoglobinopathy/ethnic origin CCS Maternal PKU CCS Us diagnosed abn CCS Paternity issues Klinefelter/CF