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The genetics of Otosclerosis. I. Distorted sex ratio.

The offspring of 214 otosclerotic x normal couples were investigated, and within these sibships, the segregation of otosclerosis is compatible with autosomal dominant inheritance. However, the overall sex ratio is approximately 0.73, with otosclerosis being approximately 1.8 times more frequent in female offspring. These observations are interpreted as the consequence of selection against males carrying the otosclerosis gene. Elimination of such males occurs only in certain sibships. The remaining families demonstrate a sex ratio approximating unity with similar rates of otosclerosis in both sexes. This selection operates mainly, and possibly only, prenatally.