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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16912


    Title: Pure distal 9p deletion in a female infant with cerebral palsy
    Authors: 陳持平;Chen, Chih-Ping
    Contributors: 生物科技學系
    Keywords: 9p deletion syndrome;ANKRD15;Cerebral Palsy;DOCKS - FOXD4;Monosomy 9p;VLDLR.
    Date: 2012-06
    Issue Date: 2012-11-23 17:18:22 (UTC+8)
    Abstract: We report cytogenetic and molecular characterization of a 15.63-Mb pure distal deletion of chromosome 9p (9p22.3-->pter) in a l 1/2-year-old female infant with cerebral palsy and diffuse cerebral dysfunction. The deletion is of paternal origin and encompasses the genes of ANKRDS15, DOCK8, FOXD4 and VLDLR. We discuss the genotype-phenotype correlation in this case with neurological dysfunction and a distal 9p deletion of paternal origin.
    Relation: GENETIC COUNSELING
    Appears in Collections:[生物科技學系] 期刊論文

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