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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/25199


    Title: Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21->qter) and partial monosomy 6q (6q27->qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold
    Authors: 陳持平;Chen, Chih-Ping;Yi-Yung Chen;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Li-Feng Chen;Wayseen Wang
    Contributors: 生物科技學系
    Keywords: Coarctation of the aorta;MED13L;RNASET2;TBX3;TBX5;Ventriculomegaly
    Date: 2013-03
    Issue Date: 2013-07-11 13:55:18 (UTC+8)
    Abstract: We present rapid aneuploidy diagnosis of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) by aCGH using uncultured amniocytes in a fetus with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. We discuss the association of TBX3, TBX5 and MED13L gene duplication with coarctation of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case.
    Relation: GENE,516(1),138–142.
    Appears in Collections:[生物科技學系] 期刊論文

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