A Case of 22q13 Deletion Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 338-344, 2010.
Artículo
en Coreano
| WPRIM
| ID: wpr-204566
ABSTRACT
The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to nonspecific facial features and difficulties in detection in routine chromosome analysis, this chromosome deletion syndrome has gone under-diagnosed. Fluorescence in situ hybridization (FISH) is required to confirm the presence of this deletion. Here we report the first case of 22q13 deletion syndrome in Korea. An 18-month-old girl was admitted to a pediatric clinic due to severe developmental delay and hypotonia from the neonatal period. She was diagnosed as 22q13 deletion syndrome through a chromosomal analysis and FISH using arylsulfatase A probe.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trastorno Autístico
/
Cerebrósido Sulfatasa
/
Discapacidades del Desarrollo
/
Deleción Cromosómica
/
Hibridación in Situ
/
Fluorescencia
/
Corea (Geográfico)
/
Trastornos del Desarrollo del Lenguaje
/
Hipotonía Muscular
Límite:
Humanos
/
Lactante
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2010
Tipo del documento:
Artículo
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