A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
Bicuspid aortic valve
Interstitial telomere
Mosaicism
Translocation
Trisomy 13
Journal
Cytogenetic and genome research
ISSN: 1424-859X
Titre abrégé: Cytogenet Genome Res
Pays: Switzerland
ID NLM: 101142708
Informations de publication
Date de publication:
2020
2020
Historique:
accepted:
14
01
2020
pubmed:
19
3
2020
medline:
24
4
2020
entrez:
19
3
2020
Statut:
ppublish
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.
Identifiants
pubmed: 32187601
pii: 000506319
doi: 10.1159/000506319
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
72-79Informations de copyright
© 2020 S. Karger AG, Basel.