MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
Annals of Rehabilitation Medicine
;
: 482-487, 2015.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Encéfalo
/
Discapacidades del Desarrollo
/
Pruebas Genéticas
/
Genes vif
/
Caminata
/
Aberraciones Cromosómicas
/
Convulsiones Febriles
/
Hibridación Genómica Comparativa
/
Reacción en Cadena de la Polimerasa Multiplex
/
Corea (Geográfico)
Límite:
Niño
/
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Rehabilitation Medicine
Año:
2015
Tipo del documento:
Artículo
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