title: A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
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.
authors: Research Center, S. Pietro Fatebenefratelli Hospital, Rome, Italy.
authors: Viola
authors: V
authors: Alesi
authors: Giuseppe
authors: G
authors: Barrano
authors: Sara
authors: S
authors: Morara
authors: Daria
authors: D
authors: Darelli
authors: Katia
authors: K
authors: Petrilli
authors: Anna
authors: A
authors: Capalbo
authors: Mario
authors: M
authors: Pacella
authors: Cristina
authors: C
authors: Haass
authors: Maurizio
authors: M
authors: Finocchi
authors: Antonio
authors: A
authors: Novelli
authors: Marta
authors: M
authors: Bertoli
mesh_terms: D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male