1988/04/01 by Rita de Cássia M. Pavanello, A. Eigier, P. A. Otto +2
paper · doi:10.1002/ajmg.1320290414
Abstract We report the results of a study performed in a sample of women with the Mayer‐Rokitansky‐Küster (MRK) anomaly and in their first‐degree relatives. Our results are compatible with a traditional model of multifactorial determination; however, we cannot exclude the hypothesis of autosomal dominant inheritance, with an intermediate degree of penetrance and a highly variable expressivity of a single mutant gene. In this sense, our data seem to support the idea expressed recently by Opitz [1987].