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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/79577


    Title: Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation
    Authors: 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Kuo, Yu-Ling;Kuo, Yu-Ling;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: 11q duplication;BAC;E2;FISH;FSH;LH;OMIM;Online Mendelian Inheritance in Man;Primary amenorrhea;X-autosome translocation;Xq deletion;Xq duplication;aCGH;array comparative genomic hybridization;bacterial artificial chromosome;del;deletion;der;derivative chromosome;dup;duplication;estradiol;fluorescence in situ hybridization;follicle stimulating hormone;luteinizing hormone;t;translocation
    Date: 2014-02
    Issue Date: 2014-06-04 10:20:09 (UTC+8)
    Abstract: We present array comparative genomic hybridization (aCGH) characterization of an unbalanced X-autosome translocation with an Xq interstitial segmental duplication in a 16-year-old girl with primary ovarian failure, mental retardation, attention deficit disorder, learning difficulty and facial dysmorphism. aCGH analysis revealed an Xq27.2-q28 deletion, an 11q24.3-q25 duplication, and an inverted duplication of Xq22.3-q27.1. The karyotype was 46,X,der(X)t(X;11)(q27.2;q24.3) dup(X)(q27.1q22.3). We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of primary amenorrhea and mental retardation with concomitant unbalanced X-autosome translocation and X chromosome rearrangement.
    Relation: GENE, Volume 535(1):88–92.
    Appears in Collections:[生物科技學系] 期刊論文

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