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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Monin, P. | Reynaud, N. | Hanna, N. | Dupuis-Girod, S. | Till, M. | Arnaud, P. | Labalme, A. | Alix, E. | Poizat-Amar, C. | Faoucher, M. | Ravella, L. | Debost, B. | Obadia, J. F. | Zech, J. C. | Boileau, C. | Sanlaville, D. | Edery, P. | Putoux, A. | Schluth-Bolard, C.

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International audience. 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, 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. FISH analyses showed interstitial telomeric sequences at the breakpoints. To our knowledge, this is the second report of a patient with trisomy 13 mosaicism displaying a severe aortic root dilatation. We also discuss the mechanisms which could explain the mosaic state, the most likely one being related to the instability of the interstitial telomere.

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