| Title | Craniosynostosis in a patient with a de novo 15q15-q22 deletion. | | Author(s) | Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N | | Institution | Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan. | | Source | Am J Med Genet A 2008 Apr 30. | | 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. (c) 2008 Wiley-Liss, Inc. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 18449934 |
|
