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Keywords: Trisomy 13
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Journal Articles

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

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Subject Area:
Genetics
Pauline Monin, Nicolas Reynaud, Nadine Hanna, Sophie Dupuis-Girod, Marianne Till, Pauline Arnaud, Audrey Labalme, Eudeline Alix, Coline Poizat-Amar, Marie Faoucher, Lucie Ravella, Bernard Debost, Jean-François Obadia, Jean-Christophe Zech, Catherine Boileau, Damien Sanlaville, Patrick Edery, Audrey Putoux, Caroline Schluth-Bolard
Journal: Cytogenetic and Genome Research
Cytogenet Genome Res (2020) 160 (2): 72–79.
https://doi.org/10.1159/000506319
Published Online: 18 March 2020
... Putoux; Caroline Schluth-Bolard In this report, we present a new case of mosaic trisomy 13 with prolonged survival, firstly detected by array-CGH analysis which was carried out because of moderate intellectual disability with postaxial hexadactyly, dermatologic features, ventricular septal defect...
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