MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
Annals of Rehabilitation Medicine
;
: 482-487, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-153671
ABSTRACT
Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encéfalo
/
Deficiências do Desenvolvimento
/
Testes Genéticos
/
Genes vif
/
Caminhada
/
Aberrações Cromossômicas
/
Convulsões Febris
/
Hibridização Genômica Comparativa
/
Reação em Cadeia da Polimerase Multiplex
/
Coreia (Geográfico)
Limite:
Criança
/
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Annals of Rehabilitation Medicine
Ano de publicação:
2015
Tipo de documento:
Artigo
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