Fiche publication
Date publication
avril 2025
Journal
Molecular genetics & genomic medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MARTIN Laurent
,
Pr FAIVRE Laurence
,
Pr PHILIPPE Christophe
,
Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Racine C, Garde A, Martz O, Safraou H, Eluard V, Rousseau T, Marle N, Harizay FT, Martin L, Maraval J, Bruel AL, Philippe C, Thauvin-Robinet C, Faivre L
Lien Pubmed
Résumé
Multiple molecular diagnoses (MMD) involve distinct or overlapping phenotypes. They are not so rare in the field of congenital anomalies, given an overall 3.5%-8% rate. Mainly, MMD imply distinct genotypes. Exceptionally, genotypes are linked, involving a causal CNV by itself, facing a SNV for a recessive disorder resulting in a dual diagnosis.
Mots clés
22q11 deletion syndrome, SCARF2, VDEGS, multiple molecular diagnosis
Référence
Mol Genet Genomic Med. 2025 04;13(4):e70096
