Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the
ELN
Elastin
Paracentric inversion
Supravalvular aortic stenosis
Whole-genome sequencing
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
accepted:
20
03
2019
entrez:
12
10
2019
pubmed:
12
10
2019
medline:
12
10
2019
Statut:
ppublish
Résumé
Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype. We report herein the case of a 4-year-old boy presenting with clinically isolated supravalvular aortic stenosis (SVAS). No chromosomal imbalance was detected by array CGH. The karyotype showed a balanced paracentric chromosome 7 inversion. Breakpoint characterization using paired-end whole-genome sequencing (WGS) revealed an
Identifiants
pubmed: 31602193
doi: 10.1159/000500215
pii: msy-0010-0209
pmc: PMC6738261
doi:
Types de publication
Journal Article
Langues
eng
Pagination
209-213Informations de copyright
Copyright © 2019 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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