A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism
Résumé
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.
Mots clés
Humans
Male
Young Adult
*Mosaicism
Aorta/*abnormalities
Bicuspid aortic valve
Chromosomes
Human
Pair 10/genetics
Pair 13/genetics
Comparative Genomic Hybridization
In Situ Hybridization
Fluorescence
Interstitial telomere
Marfan Syndrome/*etiology
Mosaicism
Translocation
Genetic
Trisomy 13
Trisomy 13 Syndrome/*diagnosis/genetics