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Keywords:

  • 16q22 duplication;
  • 15q13 deletion;
  • second-hit hypothesis;
  • epilepsy;
  • learning difficulties;
  • obesity;
  • tapering fingers;
  • short toes;
  • SNTB2;
  • WWP2

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.