MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report.
10.5535/arm.2015.39.3.482
- Author:
Jae Sun SHIM
1
;
Kyunghoon MIN
;
Seung Hoon LEE
;
Ji Eun PARK
;
Sang Hee PARK
;
Minyoung KIM
;
Sung Han SHIM
Author Information
1. Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
- Publication Type:Case Report
- Keywords:
Chromosomal aberrations;
Developmental disabilities;
5q14.3 deletion
- MeSH:
Brain;
Child;
Chromosome Aberrations;
Comparative Genomic Hybridization;
Developmental Disabilities;
Female;
Genes, vif;
Genetic Testing;
Humans;
Intellectual Disability;
Korea;
Multiplex Polymerase Chain Reaction;
Seizures, Febrile;
Walking
- From:Annals of Rehabilitation Medicine
2015;39(3):482-487
- CountryRepublic of Korea
- Language:English
-
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.
