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Clinical genetics handbook
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Clinical genetics handbook

Author: Arthur Robinson; Mary G Linden
Publisher: Boston : Blackwell Scientific Publications, 1993.
Edition/Format: Book : English : 2nd ed
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Document Type: Book
All Authors / Contributors: Arthur Robinson; Mary G Linden
ISBN: 0865421943 : 9780865421943
OCLC Number: 27974271
Description: x, 614 p. : ill. ; 23 cm.
Contents: 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.
Responsibility: [edited by] Arthur Robinson, Mary G. Linden.

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