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

Viola Alesi, Giuseppe Barrano, Sara Morara, Daria Darelli, Katia Petrilli, Anna Capalbo, Mario Pacella, Cristina Haass, Maurizio Finocchi, Antonio Novelli, Marta Bertoli

Research output: Contribution to journalArticlepeer-review

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 4Mb 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.

Original languageEnglish
Pages (from-to)2543-2551
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number10
DOIs
Publication statusPublished - Oct 2011

Keywords

  • 4p15
  • Craniosynostosis
  • Interstitial deletion 4p
  • Metopic suture
  • Trigonocephaly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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