A tale of two deletions: A report of two novel 20p13 → pter deletions

Authors


  • How to cite this article: McGill AK, Pastore MT, Herman GE, Alliman S, Rosenfeld JA, Weaver DD. 2010. A tale of two deletions: A report of two novel 20p13 → pter deletions. Am J Med Genet Part A 152A:1000–1007.

Abstract

We report on two patients with 1.7 and 1.2 Mb terminal 20p deletions, which have apparently not been reported previously. Both individuals exhibit certain similar features including large fontanelles, ear abnormalities, and seizures. However, even though the deletions are of similar size, there were many disparate features between the two. The deletions in each patient encompass at least 28 genes that may provide useful candidates for ear development and cranial ossification. © 2010 Wiley-Liss, Inc.

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