| Literature DB >> 23545313 |
Chih-Ping Chen1, Shing-Jyh Chang, Schu-Rern Chern, Peih-Shan Wu, Yu-Ting Chen, Jun-Wei Su, Wen-Lin Chen, Wayseen Wang.
Abstract
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.Entities:
Mesh：
Year: 2013 PMID： 23545313 DOI： 10.1016/j.gene.2013.03.100
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688