Clinical characterization of a Korean case with 3p25 deletion
Journal of Genetic Medicine
;
: 36-39, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-7129
ABSTRACT
Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Braço
/
Anormalidades Congênitas
/
Cromossomos Humanos Par 3
/
Recém-Nascido de Baixo Peso
/
Cardiopatias Congênitas
/
Coreia (Geográfico)
/
Deficiência Intelectual
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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