A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis

Authors


  • How to Cite this Article: Alesi V, Barrano G, Morara S, Darelli D, Petrilli K, Capalbo A, Pacella M, Haass C, Finocchi M, Novelli A, Bertoli M. 2011. A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis. Am J Med Genet Part A 155:2543–2551.

Abstract

Interstitial deletion of the short arm of chromosome 4, excluding cytoband p16, has been described as a distinct phenotype from the Wolf–Hirschhorn syndrome, characterized by a deletion encompassing cytoband p16. We report on the case of a 14-month-old boy with an apparently isolated craniosynostosis and harboring a de novo microdeletion in band 4p15. The imbalance, about 4 Mb in size is, to date, the smallest deletion ever described in this region, encompassing 12 genes. A comparison with other previously described cases of 4p15 deletion is made, and the possible roles of some genes involved in the deletion are discussed. © 2011 Wiley-Liss, Inc.

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