Craniosynostosis in a patient with a de novo 15q15-q22 deletion

Am J Med Genet A. 2008 Jun 1;146A(11):1462-5. doi: 10.1002/ajmg.a.32339.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 5 / genetics*
  • Craniosynostoses / etiology
  • Craniosynostoses / genetics*
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Microfilament Proteins / genetics


  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins