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Chih-Ping Chen Ming-Chao Huang Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Yu-Ting Chen Jun-Wei Su Wayseen Wang 《Gene》2013
We present prenatal diagnosis of de novo interstitial deletions involving 5q23.1–q23.3 and 18q12.1–q12.3 by aCGH using uncultured amniocytes in pregnancy with interrupted aortic arch and atrial septal defect in a fetus. The fetus postnatally manifested facial dysmorphisms and long slender fingers. We discuss the genotype–phenotype correlation and the consequence of haploinsufficiency of FBN2, DTNA and CELF4 in this case. 相似文献