Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Fiche publication
Date publication
septembre 2019
Journal
Molecular genetics & genomic medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick
Tous les auteurs :
Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard JB, Ragon C, Perez MJ, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J
Lien Pubmed
Résumé
Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21. This is the second well-documented description of a complete tetrasomy 21 in the literature.
Mots clés
Down syndrome, Mosaicism, atrioventricular septal defect, prenatal diagnosis, tetrasomy 21, trisomy 21
Référence
Mol Genet Genomic Med. 2019 Sep 7;:e00895