A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

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  • Dissemination of information: This case has been entered on Decipher database under the reference number SMH250275.

  • How to Cite this Article: Banka S, Fitzgibbon GJ, Gaunt L, Rankin WJ, Clayton-Smith J. 2011. A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion. Am J Med Genet Part A 155:1453–1457.

Abstract

The phenotype of 15q13.3 microdeletion is variable and can be non-penetrant. Recently, “second-hit hypothesis” has been proposed as a possible explanation for some variability in recurrent microdeletion syndromes. We present a family with a 1.9 Mb 15q13.3 deletion and a novel 800 kb 16q22.1duplication. We show that the 16q22.1 duplication may be a phenotypic modifier in this family and likely results in epilepsy and learning difficulties. We state the possible genes in this region that may be important in neurological development and function. © 2011 Wiley-Liss, Inc.

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