Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
Journal of Genetic Medicine
;
: 115-119, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-719102
ABSTRACT
The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220-kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Recien Nacido Prematuro
/
Aberraciones Cromosómicas
/
Eliminación de Gen
/
Nacimiento Prematuro
/
Análisis por Micromatrices
/
Epilepsia
/
Trastorno del Espectro Autista
/
Cardiopatías Congénitas
/
Discapacidad Intelectual
/
Obesidad
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
/
Recién Nacido
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2018
Tipo del documento:
Artículo
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