[Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(4): 475-478, 2020 Apr 10.
Article
em Zh
| MEDLINE
| ID: mdl-32219841
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a child with supravalvular aortic stenosis.METHODS:
The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.RESULTS:
No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.CONCLUSION:
The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção de Genes
/
Síndrome de Williams
/
Estenose Aórtica Supravalvular
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
China