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Am J Med Genet A. 2011 Jun;155A(6):1453-7. doi: 10.1002/ajmg.a.34034. Epub 2011 May 13.

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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  • 1Genetic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, UK. siddharth.banka@manchester.ac.uk

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 16q22.1 duplication. 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.

PMID:
21574246
DOI:
10.1002/ajmg.a.34034
[PubMed - indexed for MEDLINE]
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