ASIA unversity:Item 310904400/16735
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    题名: Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses
    作者: 陳持平;Chen, Chih-Ping;Chen-Chi Lee,;Wang, Wayseen
    贡献者: 生物科技學系
    关键词: 1p13.2;ADAR;CHRNB2;Chromosome 1 duplication;CTTNBP2NL;Epilepsy;KCNJ10;Multiple exostoses;Osteochondroma;Supernumerary ring chromosome 1
    日期: 2011-09
    上传时间: 2012-11-23 17:16:25 (UTC+8)
    摘要: We report molecular cytogenetic characterization of mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses. The supernumerary r(1) is associated with gene dosage increase of CHRNB2, ADAR and KCNJ10 in the pericentromeric area of 1q, and a breakpoint within CTTNBP2NL at 1p13.2. We speculate that the gene dosage increase of CHRNB2, ADAR and KCNJ10 is most likely responsible for epilepsy, and the breakpoint at 1p13.2 in the supernumerary r(1) is most likely responsible for the development of multiple exostoses and osteochondroma in this patient.
    關聯: GENETIC COUNSELING
    显示于类别:[生物科技學系] 期刊論文

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