Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

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

https://www.ncbi.nlm.nih.gov/pubmed/31493343

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