Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
Prenatal Diagnosis2021Vol. 42(1), pp. 118–135
Citations Over TimeTop 12% of 2021 papers
Marion Lesieur‐Sebellin, Marianne Till, Philippe Khau Van Kien, Bérénice Herve, Nicolas Bourgon, Céline Dupont, Anne‐Claude Tabet, Mathilde Barrois, Aurélie Coussement, Laurence Lœuillet, E. Mousty, Vuthy Ea, A. Assal, Laura Mary, Sylvie Jaillard, Claire Bénéteau, Claudine Le Vaillant, Charles Coutton, Françoise Devillard, Carole Goumy, A. Delabaere, Sylvia Redon, Yves Laurent, Audrey Lamouroux, Jérôme Massardier, C Turleau, Damien Sanlaville, Vincent Cantagrel, Pascale Sonigo, François Vialard, Laurent Salomon, Valérie Malan
Abstract
This is the first series of fetuses diagnosed with pure terminal 6q deletion. Based on our findings, we emphasize the prenatal sonographic anomalies, which may suggest the syndrome. Furthermore, this study highlights the importance of chromosomal microarray analysis to search for submicroscopic deletions of the 6q27 region involving the DLL1 gene in fetuses with these malformations.
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