期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 139A, 期 3, 页码 216-220出版社
WILEY
DOI: 10.1002/ajmg.a.31013
关键词
monosomy 1p36; bone mineral density; recurrent fractures; type II diabetes; hypercholesterolemia; Cantu syndrome; hypertrichosis
We report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM#239850). He also has hypercholesterolemia, type 11 diabetes, recurrent bony fractures, and non-alcoholic steatohepatitis, not previously described in either condition. The 1p36 deletion was detected in a screen of all chromosome subtelomeres using multiplex ligation-dependent probe amplification and was verified using FISH with a region-specific BAC clone. We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions. (c) 2005 Wiley-Liss, Inc.
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