Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 475-478, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-826551
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosomas Humanos Par 7
/
Pruebas Genéticas
/
Bandeo Cromosómico
/
Eliminación de Gen
/
Síndrome de Williams
/
Estenosis Aórtica Supravalvular
/
Hibridación Genómica Comparativa
/
Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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