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Craniosynostosis in a patient with a de novo 15q15‐q22 deletion
Author(s) -
Hiraki Yoko,
Moriuchi Miyuki,
Okamoto Nobuhiko,
Ishikawa Nobutsune,
Sugimoto Yosuke,
Eguchi Kuniki,
Sakai Haruya,
Saitsu Hirotomo,
Mizuguchi Takeshi,
Harada Naoki,
Matsumoto Naomichi
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32339
Subject(s) - craniosynostosis , genetics , chromosome , craniosynostoses , gene , biology , medicine
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.