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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 482 - 487 (6page)
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초록· 키워드
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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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등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
Engels H / 2009 / A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients / Eur J Hum Genet 17 : 1592 ~ 159
Hunter AG. / 2000 / Outcome of the routine assessment of patients with mental retardation in a genetics clinic / Am J Med Genet 90 : 60 ~ 68
Lee C / 2007 / Copy number variations and clinical cytogenetic diagnosis of constitutional disorders / Nat Genet 39 (7 Suppl) : S48 ~ S54
Miller DT / 2010 / Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomali
Novara F / 2010 / Refining the phenotype associated with MEF2C haploinsufficiency / Clin Genet 78 : 471 ~ 477
Hunter AG. / 2000 / Outcome of the routine assessment of patients with mental retardation in a genetics clinic / Am J Med Genet 90 : 60 ~ 68
Lee C / 2007 / Copy number variations and clinical cytogenetic diagnosis of constitutional disorders / Nat Genet 39 (7 Suppl) : S48 ~ S54
Miller DT / 2010 / Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomali
Novara F / 2010 / Refining the phenotype associated with MEF2C haploinsufficiency / Clin Genet 78 : 471 ~ 477
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