Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Autor: Isabelle Aerts, Marion Gauthier-Villars, Catherine Dehainault, Lisa Golmard, Julien Tarabeux, Dominique Stoppa-Lyonnet, Nathalie Cassoux, Gaël A Millot, Claude Houdayer, Agathe Charpin, Anthony Laugé

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩
European Journal of Human Genetics, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩

International audience; In sporadic cases, a post-zygotic mutational event signifies a somatic mosaicism in the affected child only, which implies that these mutations affect only a portion of the body. Therefore siblings do not need follow-up. On th

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https://hal-pasteur.archives-ouvertes.fr/pasteur-03105162