Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA).
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].
Pavanello
R de C
Rde C
Departamento de Biologia, Universidade de São Paulo, Brasil.
Eigier
A
A
Otto
P A
PA
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D010375:Pedigree