Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
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.
Hiraki
Yoko
Y
Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
Moriuchi
Miyuki
M
Okamoto
Nobuhiko
N
Ishikawa
Nobutsune
N
Sugimoto
Yosuke
Y
Eguchi
Kuniki
K
Sakai
Haruya
H
Saitsu
Hirotomo
H
Mizuguchi
Takeshi
T
Harada
Naoki
N
Matsumoto
Naomichi
N
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
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines