1-1 of 1
Keywords: Bicuspid aortic valve
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

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

Available to Purchase
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
..., bicuspid aortic valve, and aortic dystrophy in a 19-year-old male patient. In a subset of 15% of the cells, the patient carried a derivative chromosome 10 generated by a nonreciprocal (10;13) translocation inherited from his healthy mother who carried the translocation in a balanced and homogeneous state...
View articletitled, A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism
Open the PDF for A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism in another window