Journal of Medical Genetics · 1988 · 12 citations · 1 references
GeneticsGenetic EpidemiologyLinkage AnalysisFamily StructurePhenylketonuria FamiliesTransgenerational EffectClinical GeneticsGenotype-phenotype AssociationPublic HealthGenetic PredispositionMonogenic DisordersSize LimitationPedigree AnalysisStatistical GeneticsGenetic FactorGenetic VariationFamily SizePopulation GeneticsSibship SizeGenetic DisorderPediatricsMedicineMendelian Inheritance
Limitation of family size after the birth of a child with a serious disorder poses a problem in demonstrating autosomal recessive inheritance. In this paper methods are presented for distinguishing autosomal recessive inheritance given a 100% deterrent effect, and revealing a partial deterrent effect by analysis of sibship size and comparison with general population data. These methods are illustrated using information from phenylketonuria families.
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C.O. Carter, K. Evans, June Roberts et al. · The Lancet · 1971 · 147 citations