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

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
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
Series:Molecular Genetics & Genomic Medicine
Subjects:
atrioventricular septal defect
Down syndrome
Mosaicism
prenatal diagnosis
tetrasomy 21
trisomy 21
Online Access:https://doi.org/10.1002/mgg3.895

Internet

https://doi.org/10.1002/mgg3.895

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