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 inh...

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Veröffentlicht in:American journal of medical genetics 1988-04, Vol.29 (4), p.845-849
Hauptverfasser: de Cássia M. Pavanello, Rita, Eigier, A., Otto, P. A., Optiz, John M., Reynolds, James F.
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Sprache:eng
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Zusammenfassung: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].
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320290414