期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 146A, 期 11, 页码 1462-1465出版社
WILEY
DOI: 10.1002/ajmg.a.32339
关键词
15q interstitial deletion; craniosynostosis; FBN1 deletion
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. (C) 2008 Wiley-Liss, Inc.
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