A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu Syndrome

被引：15
作者：
Tan, TY
Bankier, A
Slater, HR
Northrop, EL
Zacharin, M
Savarirayan, R
机构：
[1] Murdoch Childrens Res Inst, Melbourne, Vic, Australia
[2] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
[3] Monash Univ, Dept Paediat, Melbourne, Vic 3004, Australia
[4] Royal Childrens Hosp, Genet Hlth Serv Victoria, Melbourne, Vic, Australia
[5] Royal Childrens Hosp, Dept Endocrinol & Diabet, Melbourne, Vic, Australia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 139A卷 / 03期
关键词：
monosomy; 1p36; bone mineral density; recurrent fractures; type II diabetes; hypercholesterolemia; Cantu syndrome; hypertrichosis;
D O I：
10.1002/ajmg.a.31013
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：216 / 220
页数：5
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