Pavanello R de C, Eigier A, Otto P A
Departamento de Biologia, Universidade de São Paulo, Brasil.
Am J Med Genet. 1988 Apr;29(4):845-9. doi: 10.1002/ajmg.1320290414.
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].
我们报告了一项针对患有迈耶-罗基坦斯基-库斯特（MRK）综合征的女性及其一级亲属样本所开展研究的结果。我们的结果与传统的多因素决定模型相符；然而，我们不能排除常染色体显性遗传的假说，即单个突变基因具有中等程度的外显率和高度可变的表现度。从这个意义上讲，我们的数据似乎支持了奥皮茨[1987年]最近提出的观点。
