Hiraki Yoko, Moriuchi Miyuki, Okamoto Nobuhiko, Ishikawa Nobutsune, Sugimoto Yosuke, Eguchi Kuniki, Sakai Haruya, Saitsu Hirotomo, Mizuguchi Takeshi, Harada Naoki, Matsumoto Naomichi
Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
Am J Med Genet A. 2008 Jun 1;146A(11):1462-5. doi: 10.1002/ajmg.a.32339.
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.
涉及染色体带15q15的间质性缺失非常罕见。此前共报道了5例病例。本文报告了另一例15q15.2-q22.2缺失病例，表现为冠状缝、额缝和矢状缝严重颅缝早闭。发生17.7 Mb缺失的15号染色体来自父方。颅缝早闭的关键区域可能位于15q15.2的734 kb片段处。有趣的是，该患者的整个FBN1基因都缺失了。
