Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/64313

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题名:	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
贡献者:	生物科技學系
关键词:	18p deletion syndrome;Holoprosencephaly;Prenatal diagnosis;TGIF
日期:	201309
上传时间:	2013-10-29 09:36:24 (UTC+0)
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.
显示于类别:	[生物科技學系] 期刊論文

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