胎儿间期诊断和分子细胞遗传学特征：7q 臂内缺失（7q22.1→q31.1）。
Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1→q31.1).
机构信息
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
出版信息
Gene. 2013 Jun 1;521(2):311-5. doi: 10.1016/j.gene.2013.03.100. Epub 2013 Mar 29.
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.
我们通过 aCGH、FISH 和 QF-PCR 技术对一位母体血清筛查异常且超声检查显示面部裂和生殖器发育不全的胎儿进行了新发的 7q 染色体（7q22.1→q31.1）片段缺失的产前诊断和分子细胞遗传学特征分析。我们讨论了在这种情况下 ZKSCAN5、ARPC1A、CYP3A43、RELN、LAMB1、IMMP2L 和 DOCK4 基因单倍体不足的基因型-表型相关性及其后果。
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