MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
Annals of Rehabilitation Medicine
;
: 482-487, 2015.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Encéphale
/
Incapacités de développement
/
Dépistage génétique
/
Gènes vif
/
Marche à pied
/
Aberrations des chromosomes
/
Crises convulsives fébriles
/
Hybridation génomique comparative
/
Réaction de polymérisation en chaine multiplex
/
Corée
Limites du sujet:
Enfant
/
Femelle
/
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Annals of Rehabilitation Medicine
Année:
2015
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS