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 in Human genetics Vol. 6 (1968), p. 13-28 Weitere Artikel Online-Artikel German 1968 Online-Ressource Online Hinzufügen Keine Tags. Fügen Sie den ersten Tag hinzu! Copyright: Copyright 1968 Springer-Verlag
LEADER 001 003 01936nma a2200289 c 4500 NLEJ205602304 DE-601 20110128213702.0 cr uuu---uuuuu 070528s1968 000 0 ger d 7 |a 14591881  |2 DE-600 |b ger  |c GBVCP 0 |a ger |a soj  |2 natliz 0 0 |a Genetische Untersuchungen bei funktionell-obstruktiver subvalvulärer Aortenstenose (irregulär hypertrophischer Kardiomyopathie)  |h Elektronische Ressource |a Online-Ressource |a Copyright: Copyright 1968 Springer-Verlag |a 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. |a Online edition  |f Springer Online Journal Archives 1860-2002 ; 041039-1 1 |a Jörgensen, Gerhard 0 8 |i in  |t Human genetics   |g Vol. 6 (1968), p. 13-28  |q 6<13-28  |w (DE-601)NLEJ188992812  |x 1432-1203 4 0 |u http://dx.doi.org/10.1007/BF00287150 |a OLC |a ZDB-1-SOJ |a GBV_NL_ARTICLE |a AR |d 6  |j 1968  |c 1  |h 13-28  |g 16

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