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. 1973 Mar;10(1):23–26. doi: 10.1136/jmg.10.1.23

Segregation Ratios in Alport's Syndrome

Elizabeth MacNeill 1,*, Richard F Shaw 1,
PMCID: PMC1012971  PMID: 4697851

Abstract

Pooled data of 35 pedigrees for Alport's syndrome were analysed. Affected to normal ratios among the offspring of heterozgyous fathers and mothers were tabulated. Offspring of heterozygous mothers were tabulated separately where the mother showed symptoms of the disease and where she was asymptomatic. Three current theories on the inheritance of Alport's syndrome are considered and discussed. Each theory fails to account fully for the known facts. A non-chromosomal agent has not yet been excluded for this intriguing disease.

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Selected References

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