Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 620-623, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-771953
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with congenital heart disease (CHD).@*METHODS@#Clinical examination of the child was carried out. Chromosomal microarray analysis (CMA) and quantitative PCR were carried out to detect copy number variations.@*RESULTS@#The major features of the child included CHD (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, patent ductus arteriosus, and patent foramen ovale), severe pneumonia and liver failure. A de novo 3.2 Mb deletion encompassing 25 genes in 13q34 and a paternal 2.2 Mb duplication in 19p13.3 were revealed by CMA and qPCR.@*CONCLUSION@#The 13q34 region probably contains susceptibility genes for CHD.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosomas Humanos Par 13
/
Deleción Cromosómica
/
Trastornos de los Cromosomas
/
Variaciones en el Número de Copia de ADN
/
Cardiopatías Congénitas
Límite:
Niño
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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