A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations

by Celine Chalas, Aline Receveur, Nelly Frydman, Nathalie Massin, Gerard Tachdjian, Veronique Drouineaud, Alexandra Benachi, Catherine Patrat, Francois Michael Petit
Published 2020-10-01

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

by Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Published 2017-01-01

Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet

by Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
Published 2017-10-01