title: Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
abstract: Interstitial deletions involving the chromosomal band 15q15 are very rare. A total of five cases were previously reported. Here another case of a 15q15.2-q22.2 deletion is reported, presenting with severe craniosynostosis of coronary, metopic, and sagittal sutures. The chromosome 15 with the 17.7-Mb deletion was of the paternal origin. A critical region for craniosynostosis may be located at the 734-kb segment at 15q15.2. Interestingly, the entire FBN1 gene was deleted in this patient.
authors.affiliation: Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.forename: Miyuki
authors.initials: M
authors.lastname: Moriuchi
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Nobutsune
authors.initials: N
authors.lastname: Ishikawa
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Sugimoto
authors.forename: Kuniki
authors.initials: K
authors.lastname: Eguchi
authors.forename: Haruya
authors.initials: H
authors.lastname: Sakai
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003398:Craniosynostoses / Q000209:etiology / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008840:Microfilament Proteins / Q000235:genetics; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines