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심성한,김민영,조계희 한국유전학회 2017 Genes & Genomics Vol.39 No.2
A de novo complex chromosomal rearrangement is very rare but likely to be present in a child with developmental disabilities and physical alterations. A child presented in this study showed global developmental delay and some typical phenotypes. Initial karyotyping and FISH analysis in the patient showed an apparently de novo balanced translocation between chromosome 3 and 8, t(3;8)(q13.1;q24.2). Further analysis using multiplex ligation-dependent probe amplification and array-based comparative genomic hybridization revealed a cryptic microdeletion on 3p13 region. Nearly one-third of balanced rearrangements are reported to involve cryptic disruptions at breakpoints, however, the microdeletion of the proposita was present in non-translocated region of the chromosome 3. After careful reevaluation of the results, a pericentric inversion, inv(3)(p13q13.1) that induced deletion was revealed. The clinical features of developmental delay in cognition, language, and motor function and facial and physical phenotype of the proposita were similar to those found in the children with 3p13 deletion. This case shows that combined molecular cytogenetic techniques with routine karyotyping are very useful to identify subtle genomic changes associated with abnormal phenotypes.
그라핀을 포함하는 폴리이미드 멤브레인의 미세조직구조 변화
심성은,김정수,남대근,오원태,Shim, Seong Eun,Kim, Jungsoo,Nam, Dae-Geun,Oh, Weontea 한국전기전자재료학회 2014 전기전자재료학회논문지 Vol.27 No.1
The polyimide composite membranes were prepared with polyimide composite solutions including graphenes by using the phase inversion method. The morphologies of these membranes were significantly changed according to the graphene loadings in composite solutions and the solvent systems of the composite solutions. The finger-like macro-voids were formed in the hollow fiber membranes which were prepared in the NMP solvent system with a small amount of ethanol. As increasing the content of the viscous alcohols such as glycerol or 1,3-propanediol in the composite solution, however, the morphologies of the hollow fiber membranes were changed to sponge-like types. In case of flat membranes, the increase of graphene content in polyimide composites causes that their membranes change from the finger-like macro-porous to sponge-like morphologies.