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KMID : 0361420150390030482
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Journal of Korean Academy of Rehabilitation Medicine
2015 Volume.39 No. 3 p.482 ~ p.487
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MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
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Shim Jae-Sun
Min Kyung-Hoon
Lee Seung-Hoon
Park Ji-Eun
Park Sang-Hee
Kim Min-Young
Shim Sung-Han
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Abstract
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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.
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KEYWORD
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Chromosomal aberrations, Developmental disabilities, 5q14.3 deletion
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