A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization (FISH)
Journal of the Korean Pediatric Society
;
: 438-443, 2000.
Artigo
em Coreano
| WPRIM
| ID: wpr-130112
ABSTRACT
Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Cromossomos Humanos Par 4
/
Diagnóstico
/
Síndrome de Wolf-Hirschhorn
/
Hipertelorismo
/
Lábio
/
Deficiência Intelectual
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2000
Tipo de documento:
Artigo
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