Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2816881 | Gene | 2013 | 6 Pages |
Abstract
•We present de novo del(5)(q23.1–q23.3) and del(18)(q12.1–q12.3) in a fetus.•The prenatal findings include interrupted aortic arch and atrial septal defect.•We discuss the genotype–phenotype correlation.
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.
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Authors
Chih-Ping Chen, Ming-Chao Huang, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Yu-Ting Chen, Jun-Wei Su, Wayseen Wang,