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

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

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
134 KB
Volume
146A
Category
Article
ISSN
1552-4825

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✦ Synopsis

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. Β© 2008 Wiley‐Liss, Inc.

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