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

Abstract 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...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Vincent Gatinois, Nicole Bigi, Eve Mousty, Jean Chiesa, Yuri Musizzano, Anouck Schneider, Geneviève Lefort, Lucile Pinson, Jean‐Baptiste Gaillard, Clémence Ragon, Marie‐Josée Perez, Magali Tournaire, Patricia Blanchet, Carole Corsini, Emmanuelle Haquet, Patrick Callier, David Geneviève, Franck Pellestor, Jacques Puechberty
Format:	Article
Language:	English
Published:	Wiley 2019-11-01
Subjects:	atrioventricular septal defect Down syndrome Mosaicism prenatal diagnosis tetrasomy 21 trisomy 21
Online Access:	https://doi.org/10.1002/mgg3.895