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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/64372


    Title: Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review
    Authors: 陳持平;Chen, Chih-Ping;Chen, Ming;Chen, Ming;Su, Yi-Ning;Su, Yi-Ning;Hua, Jian-Pei;Huang, Jian-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Ch, Shun-Ping;Chang, Shun-Ping;Chen, Li-Feng;Chen, Li-Feng;Pan, Chen-Wen;Pan, Chen-Wen;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: AFP;Amniocentesis;CNS;Chromosome 1p21.1-p12 duplication syndrome;FISH;IUGR;MCB;Mosaicism;NT;OMIM;Online Mendelian Inheritance in Man;PDA;Prenatal diagnosis;QF-PCR;SKY;Small supernumerary marker chromosome 1;UPD;VSD;aCGH;array comparative genomic hybridization;central nervous system;del;deletion;der;derivative chromosome;dup;duplication;fluorescence in situ hybridization;intrauterine growth restriction;inv;inverted;mar;marker chromosome;mat;maternal;multicolor banding;nuchal translucency;patent ductus arteriosus;quantitative fluorescent polymerase chain reaction;r;ring chromosome;sSMC;small supernumerary marker chromosome;spectral karyotyping;uniparental disomy;ventricular septal defect;α-fetoprotein
    Date: 201310
    Issue Date: 2013-11-01 09:59:16 (UTC+8)
    Abstract: We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.
    Relation: GENE, 529(1):169-75.
    Appears in Collections:[生物科技學系] 期刊論文

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