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

2008; Wiley; Volume: 146A; Issue: 11 Linguagem: Inglês

10.1002/ajmg.a.32339

1552-4833

Yoko Hiraki, Miyuki Moriuchi, Nobuhiko Okamoto, Nobutsune Ishikawa, Yosuke Sugimoto, Kuniki Eguchi, Haruya Sakai, Hirotomo Saitsu, Takeshi Mizuguchi, Naoki Harada, Naomichi Matsumoto,

Craniofacial Disorders and Treatments

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. © 2008 Wiley‐Liss, Inc.