Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

doi:10.1002/pd.6074

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Article

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.

Prenatal diagnosis - 1 Jan 2022

Lesieur-Sebellin Marion, Till Marianne, Khau Van Kien Philippe, Herve Bérénice, Bourgon Nicolas, Dupont Céline, Tabet Anne-Claude, Barrois Mathilde, Coussement Aurélie, Loeuillet Laurence, Mousty Eve, Ea Vuthy, El Assal Amal, Mary Laura, Jaillard Sylvie, Beneteau Claire, Le Vaillant Claudine, Coutton Charles, Devillard Françoise, Goumy Carole, Delabaere Amélie, Redon Sylvia, Laurent Yves, Lamouroux Audrey, Massardier Jérôme, Turleau Catherine, Sanlaville Damien, Cantagrel Vincent, Sonigo Pascale, Vialard François, Salomon Laurent J, Malan Valérie

Abstract excerpt

OBJECTIVE: Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed in patients harboring pathogenic variants in the DLL1 gene. Our study aimed to further characterize the prenatal phenotype of this syndrome as well as to attempt to establish...

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PMID: 34894355
DOI: 10.1002/pd.6074

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