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First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van Den Ende-Gupta and 22q11.2 Deletion Syndromes.

Caroline Racine,Aurore Garde, Olivia Martz,Hana Safraou, Vinciane Eluard, Thierry Rousseau, Nathalie Marle, Fara T Harizay, Laurent Martin, Julien Maraval,Ange-Line Bruel, Christophe Philippe,Christel Thauvin-Robinet,Laurence Faivre

Molecular genetics & genomic medicine（2025）

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Key words
22q11 deletion syndrome,multiple molecular diagnosis,SCARF2,VDEGS
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