A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

被引:18
作者
Lund, Ann-Britt Kiholm [1 ]
Hove, Hanne Dahgaard [1 ]
Kirchhoff, Maria [1 ]
机构
[1] Dept Clin Genet, DK-4062 Copenhagen, Denmark
关键词
15q24; Microduplication; 244k Agilent oligoarray; 15q24 Microdeletion syndrome;
D O I
10.1016/j.ejmg.2008.07.008
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalities. The duplication was inherited from a healthy father, but was considered clinically significant, as the patient shared clinical features with 15q24 microdeletion syndrome patients. To our knowledge this is the first report of a patient with a 15q24 microduplication. (C) 2008 Elsevier Masson SAS. All fights reserved.
引用
收藏
页码:520 / 526
页数:7
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