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

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

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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.

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