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- W2017068336 abstract "En dépit de nombreuses études, les risques génétiques dus à l’augmentation de l’âge parental restent mal connus. Il semble qu’un certain nombre de pathologies mendéliennes soient liées à l’âge paternel, mais cette relation est hétérogène et varie en fonction des pathologies. De même, pour les pathologies avec un mode d’hérédité complexe comme certaines malformations congénitales, une relation avec des néomutations dominantes d’origine paternelle est évoquée. Enfin, l’âge maternel reste le seul facteur causal dont la démonstration ait été faite dans les aneuploïdies. Despite numerous studies, the age-related risk of genetic defects in the offspring remains poorly understood. It is clear that the frequency at birth of some mendelian disorders is related to advanced paternal age, but this relationship is heterogeneous and varies from one disorder to another. Similarly, it has been proposed that among commonly observed birth defects, a subgroup of cases may be due to new unrecognized dominant mutations of paternal origin. Finally, despite many years of enquiry, increasing maternal age remains the only incontrovertible factor associated with human aneuploidy." @default.
- W2017068336 created "2016-06-24" @default.
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- W2017068336 date "2002-10-01" @default.
- W2017068336 modified "2023-09-27" @default.
- W2017068336 title "Âge parental et risques génétiques pour la descendance" @default.
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- W2017068336 doi "https://doi.org/10.1016/s1297-9589(02)00446-0" @default.
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