title: MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report.
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.
authors.affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
authors.forename: Jae Sun
authors.initials: JS
authors.lastname: Shim
authors.affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
authors.forename: Kyunghoon
authors.initials: K
authors.lastname: Min
authors.affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
authors.forename: Seung Hoon
authors.initials: SH
authors.lastname: Lee
authors.affiliation: Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Park
authors.affiliation: Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Sang Hee
authors.initials: SH
authors.lastname: Park
authors.affiliation: Department of Rehabilitation Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea.
authors.forename: MinYoung
authors.initials: M
authors.lastname: Kim
authors.affiliation: Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea. ; Department of Biomedical Science, College of Life Science, CHA University, Pocheon, Korea.
authors.forename: Sung Han
authors.initials: SH
authors.lastname: Shim
keywords: 5q14.3 deletion; Chromosomal aberrations; Developmental disabilities