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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16797


    Title: Pure interstitial duplication of chromosome 7q (7q31.2->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and mental retardation
    Authors: 陳持平;Chen, Chih-Ping
    Contributors: 生物科技學系
    Keywords: "7q31.2→q33;Chromosome 7q duplication;ING3;LEP;Growth restriction;Strabismus"
    Date: 2011-12
    Issue Date: 2012-11-23 17:17:07 (UTC+8)
    Abstract: "Pure interstitial duplication of chromosome 7q (7q31.2→q33) in a 4-yearold girl with growth restriction, short stature, speech delay and mental retardation:
    We report the cytogenetic and molecular characterization of a 22.3-Mb pure interstitial
    duplication of chromosome 7q, dup(7)(q31.2→q33) in a 4-year-old girl with growth
    restriction, short stature, speech delay, inguinal hernia, strabismus and intellectual
    disability. We speculate that the gene dosage increase effect of the ING3 and LEP
    genes may be partially responsible for the phenotype of growth restriction and short
    stature in this patient."
    Relation: GENETIC COUNSELING
    Appears in Collections:[生物科技學系] 期刊論文

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