A Case of 22q13 Deletion Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 338-344, 2010.
Article
em Ko
| WPRIM
| ID: wpr-204566
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Transtorno Autístico
/
Cerebrosídeo Sulfatase
/
Deficiências do Desenvolvimento
/
Deleção Cromossômica
/
Hibridização In Situ
/
Fluorescência
/
Coreia (Geográfico)
/
Transtornos do Desenvolvimento da Linguagem
/
Hipotonia Muscular
Limite:
Humans
/
Infant
País/Região como assunto:
Asia
Idioma:
Ko
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2010
Tipo de documento:
Article