PRAC GENETIC COUNSEL(0750633689)3EThe counselling of those at risk from inherited disorders forms an integral and expanding part of medicine, and advances are continually being made in this area of practice. Increasingly, common disorders are known to have a genetic component, and this book provides invaluable up-to-dateguidance through the profusion of new information, and the associated psychosocial and ethical considerations and concerns. Changes for the sixth edition include full coverage of the implications of the human genome project for clinical genetic practice, the expanding societal implications of humangenetics, and increased coverage of genetics and common diseases, including cancer genetics. The layout of the book has been much improved and modernized, with line illustrations redrawn throughout. |
Contents
Genetic counselling in mendelian disorders | 18 |
Genetic counselling in nonmendelian disorders | 48 |
Chromosomal abnormalities | 55 |
Copyright | |
26 other sections not shown
Common terms and phrases
affected child affected individuals alleles amniocentesis associated autosomal dominant autosomal dominant inheritance autosomal recessive autosomal recessive disorders autosomal recessive inheritance cancer carrier detection cell cent Chapter chromosome abnormalities cleft clinical clinicians common congenital heart consanguinity couples cytogenetic deafness deficiency diabetes DNA analysis dominantly inherited Down's syndrome Duchenne muscular dystrophy dysplasia enzyme factors family members female fetal Figure first-degree relatives following autosomal dominant frequently Further reading gene genetic counselling genetic disorders genetic risks haemophilia heart disease hereditary heterogeneous heterozygotes Huntington's disease important increased inherited disorders involved isolated lethal locus major markers maternal medical genetics mendelian inheritance mental retardation metabolic molecular mosaicism myotonic dystrophy neural tube defects normal onset parents patients pedigree polycystic kidney disease population possible pregnancy prenatal diagnosis problems protein rare recognized recurrence risk renal result risk for offspring screening sibs situation studies Table testing translocation trisomy tumour twin usually variable X-linked recessive