Article ID Journal Published Year Pages File Type
2816881 Gene 2013 6 Pages PDF
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.

Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
, , , , , , , ,