Article
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
American journal of medical genetics. Part A - 1 Mar 2014
Oehl-Jaschkowitz Barbara, Vanakker Olivier M, De Paepe Anne, Menten Björn, Martin Thomas, Weber Georg, Christmann Alexander, Krier Romain, Scheid Simone, McNerlan Susan E, McKee Shane, Tzschach Andreas
Abstract excerpt
Interstitial deletions of chromosome band 14q24.1q24.3 are apparently very rare. We report on three unrelated patients with overlapping de novo deletions of sizes 5.4, 2.8, and 2.3 Mb in this region. While some clinical problems such as intestinal malrotation, cryptorchidism, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, congenital heart defects...
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