Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1)

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/25209

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题名:	Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1)
作者:	陳持平;Chen, Chih-Ping;Shing-Jyh Chang;Schu-Rern Chern;Peih-Shan Wu;Yu-Ting Chen;Jun-Wei Su;Wen-Lin Chen;Wayseen Wang
贡献者:	生物科技學系
关键词:	7q22–q31 deletion;Chromosome 7q;Facial cleft;Hypogenitalism;Interstitial deletion;Prenatal diagnosis
日期:	2013-06
上传时间:	2013-07-11 05:55:36 (UTC+0)
摘要:	We present prenatal diagnosis and molecular cytogenetic characterization of de novo interstitial deletion of 7q (7q22.1 → q31.1) by aCGH, FISH and QF-PCR in a fetus with an abnormal maternal serum screening result and ultrasound findings of facial cleft and hypogenitalism. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of ZKSCAN5, ARPC1A, CYP3A43, RELN, LAMB1, IMMP2L and DOCK4 in this case.
關聯:	GENE,21(2),311–315.
显示于类别:	[生物科技學系] 期刊論文

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