Genetic Studies on Congenital Aural Fistula
- 1 January 1969
- journal article
- research article
- Published by Cambridge University Press (CUP) in Acta geneticae medicae et gemellologiae
- Vol. 18 (1) , 51-68
- https://doi.org/10.1017/s1120962300012300
Abstract
SUMMARY: A research has been carried out on a sample of 29.309 Milan school children. Among them, 321 carriers of congenital aural fistula (FAC) have been found. Pedigrees could be drawn in 93 cases, covering three generations and including as collateral branches families of uncles and aunts. According to Smith's test (modified) the trait appears to be inherited as an autosomal dominant, with a penetrance of 85%. The phenotypical frequency (genetically controlled, i.e. excluding phenocopies) is of 1%, while the gene frequency may be estimated around 0.5%.Keywords
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