Clinical Genetics Handbook

Abstract

2nd ed. Applied genetics -- Genetic assessment and counseling by the primary care physician -- Genetic counseling: principles and methods -- Consanguinity -- Reproductive failure: infertility, spontaneous abortion and stillbirth -- Reproductive options -- Prenatal diagnosis -- Genetic screening -- Disorders in clinical genetics -- Mental retardation -- Chromosome disorders -- Autosomal chromosome syndromes -- Down's syndrome -- Sex chromosome anomalies -- Fragile X syndrome -- Neurologic disorders -- Neural-tube defects: anencephaly/spina bifida -- Hydrocephalus -- Epilepsy -- Tuberous sclerosis -- Neurofibromatosis -- Alzheimer's disease -- Huntington's disease -- Neuromuscular disorders -- Genetic neuromuscular disorders -- Muscle disorders -- Genetic muscle disorders: dystrophies, myotonias and myopathies -- Hematologic disorders -- Heritable clotting disorders -- Sicke-cell anemia -- Thalasemias -- Cardiovascular disorders -- Predisposition to coronary artery disease -- Hypertension -- Congenital heart defects -- Skeletal system disorders -- Short stature -- Congenital limb defects. (cont) Respiratory system disorders -- Cystic fibrosis -- [alpha]₁-antitrypsin deficiency -- Urogenital system disorders -- Cystic kidney disease -- Ambiguous genitalia and hermaphroditism -- Disorders of other specific systems -- Genetic disorders of the immune system -- Hereditary visual disorders -- Hereditary hearing loss -- Genetic disorders of the skin -- Hereditary disorders of connective tissue -- Metabolic disease -- Classification of inborn errors of metabolism -- Tay-Sachs disease -- Wilson's disease -- Diabetes mellitus -- Phenylketonuria -- Cancer -- Hereditary cancers -- Familial forms of breast cancer -- Genetic forms of colon cancer -- Psychiatric disorders -- Alcoholism and fetal alcohol syndrome -- Multiple congenital anomalies -- Syndromes/symptom complexes -- Teratogenesis -- Isolated congenital anomalies -- Cleft lip and/or cleft palate -- Other isolated birth defects -- Pharmacogenetics -- Genetic problems in anesthesia -- Glucose-6-phosphate dehydrogenase deficiency (drug-induced hemolytic anemia) -- Porphyria. (cont) Respiratory system disorders -- Cystic fibrosis -- α₁-antitrypsin deficiency -- Urogenital system disorders -- Cystic kidney disease -- Ambiguous genitalia and hermaphroditism -- Disorders of other specific systems -- Genetic disorders of the immune system -- Hereditary visual disorders -- Hereditary hearing loss -- Genetic disorders of the skin -- Hereditary disorders of connective tissue -- Metabolic disease -- Classification of inborn errors of metabolism -- Tay-Sachs disease -- Wilson's disease -- Diabetes mellitus -- Phenylketonuria -- Cancer -- Hereditary cancers -- Familial forms of breast cancer -- Genetic forms of colon cancer -- Psychiatric disorders -- Alcoholism and fetal alcohol syndrome -- Multiple congenital anomalies -- Syndromes/symptom complexes -- Teratogenesis -- Isolated congenital anomalies -- Cleft lip and/or cleft palate -- Other isolated birth defects -- Pharmacogenetics -- Genetic problems in anesthesia -- Glucose-6-phosphate dehydrogenase deficiency (drug-induced hemolytic anemia) -- Porphyria.