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Genetic counselling in mendelian disorders
Genetic counselling in nonmendelian disorders
27 other sections not shown
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 phenotype 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