Genetische Untersuchungen bei funktionell-obstruktiver subvalvulärer Aortenstenose (irregulär hypertrophischer Kardiomyopathie)

Summary Family investigations have been carried out on 32 propositi with functional obstructive subvalvular aortic stenosis. In the families of 15 propositors members were further-more affected. According to our own observations as well as to the literature this heart disease shows an autosomal domi... Ausführliche Beschreibung

1. Person: Jörgensen, Gerhard
Quelle: in Human genetics Vol. 6 (1968), p. 13-28
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Format: Online-Artikel
Sprache: German
Veröffentlicht: 1968
Beschreibung: Online-Ressource
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Anmerkung: Copyright: Copyright 1968 Springer-Verlag
Zusammenfassung: Summary Family investigations have been carried out on 32 propositi with functional obstructive subvalvular aortic stenosis. In the families of 15 propositors members were further-more affected. According to our own observations as well as to the literature this heart disease shows an autosomal dominant mode of inheritance with a reduced penetrance and variable manifestations. Using the maximum-likelihood-method, the risk of the brothers or sisters to be affected is calculated as being between $$\hat p = 0.287 \pm 0.0215$$ (k=0, rmin=1) and $$\hat p = 0.320 \pm 0.0748$$ (k=1, rmin=1). The probability of parents in the “familial” observations to be affected is between 32.9±8.1 and 33.3±8.1. Only one half of the cases observed are “familial”, the others are “sporadic”. It is not impossible, that a part of the sporadic cases could be dominant mutants, because the mean age of the fathers at the birth is higher than expected.
ISSN: 1432-1203

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