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

BACKGROUND: 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‐do...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Main Authors: Gatinois, Vincent, Bigi, Nicole, Mousty, Eve, Chiesa, Jean, Musizzano, Yuri, Schneider, Anouck, Lefort, Geneviève, Pinson, Lucile, Gaillard, Jean‐Baptiste, Ragon, Clémence, Perez, Marie‐Josée, Tournaire, Magali, Blanchet, Patricia, Corsini, Carole, Haquet, Emmanuelle, Callier, Patrick, Geneviève, David, Pellestor, Franck, Puechberty, Jacques
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825868/
https://ncbi.nlm.nih.gov/pubmed/31493343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.895
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares