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Genetic counselling in mendelian disorders
Genetic counselling in nonmendelian disorders
27 other sections not shown
affected child affected individuals affected males amniocentesis amniotic associated autosomal dominant autosomal dominant inheritance autosomal recessive autosomal recessive disorders autosomal recessive inheritance biochemical birth carrier detection cells cent Chapter chromosomal abnormalities clinical clinicians congenital heart consanguinity couples cytogenetic deafness deficiency diabetes dominantly inherited Down's syndrome Duchenne muscular dystrophy dysplasia enzyme factors female fetal Figure first-degree relatives follow autosomal recessive following autosomal dominant frequency gene genetic counselling genetic disorders genetic risks haemophilia healthy heart disease hereditary heterozygotes Huntington's disease important increase inherited disorders involved isolated lethal major malformations markers maternal medical genetics mendelian inheritance mental retardation metabolic molecular mutations myotonic dystrophy neural tube defects normal onset parents patients pedigree polymorphisms population possible pregnancy prenatal diagnosis prior risk problems rare recurrence risk renal result risk for offspring risk to sibs severe situation specific studies Table tests translocation trisomy tumours twin ultrasound usually variable X-linked recessive