ASIA unversity:Item 310904400/16735
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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16735


    Title: Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses
    Authors: 陳持平;Chen, Chih-Ping;Chen-Chi Lee,;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: 1p13.2;ADAR;CHRNB2;Chromosome 1 duplication;CTTNBP2NL;Epilepsy;KCNJ10;Multiple exostoses;Osteochondroma;Supernumerary ring chromosome 1
    Date: 2011-09
    Issue Date: 2012-11-23 17:16:25 (UTC+8)
    Abstract: 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.
    Relation: GENETIC COUNSELING
    Appears in Collections:[Department of Biotechnology] Journal Article

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