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    題名: Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes
    作者: 陳持平;Chen, Chih-Ping;Hua, Jian-Pei;Huang, Jian-Pei;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Pan, Chen-Wen;Pan, Chen-Wen;Wang, Wayseen;Wang, Wayseen
    貢獻者: 生物科技學系
    關鍵詞: 18p deletion syndrome;Holoprosencephaly;Prenatal diagnosis;TGIF
    日期: 201309
    上傳時間: 2013-10-29 17:36:24 (UTC+8)
    摘要: We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32-p11.21 by aCGH using uncultured amniocytes in a pregnancy with fetal holoprosencephaly and premaxillary agenesis. QF-PCR analysis showed that distal 18p deletion was from maternal origin. Metaphase FISH analysis confirmed haploinsufficiency of TGIF. We discuss the functions of the genes that are deleted within this region. The present case shows the usefulness of applying aCGH on uncultured amniocytes for rapid aneuploidy diagnosis in cases with prenatally detected fetal structural abnormalities.
    關聯: GENE, 527(2):636-41.
    顯示於類別:[生物科技學系] 期刊論文


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