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A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
Author(s) -
Alesi Viola,
Barrano Giuseppe,
Morara Sara,
Darelli Daria,
Petrilli Katia,
Capalbo Anna,
Pacella Mario,
Haass Cristina,
Finocchi Maurizio,
Novelli Antonio,
Bertoli Marta
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34201
Subject(s) - craniosynostosis , genetics , biology , craniosynostoses , phenotype , gene
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.