A microduplication of CBP in a patient with mental retardation and a congenital heart defect

被引：21

作者：

Thienpont, Bernard ^{[1
]}

Breckpot, Jeroen ^{[1
]}

Holvoet, Maureen ^{[1
]}

Vermeesch, Joris R. ^{[1
]}

Devriendt, Koen ^{[1
]}

机构：

[1] Univ Hosp Leuven, Ctr Human Genet, B-3000 Louvain, Belgium

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 18期

关键词：

Rubinstein-Taybi; CBP; duplication;

D O I：

10.1002/ajmg.a.31893

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Rubinstein-Taybi syndrome is a well-characterized genetic syndrome caused by haploinsufficiency of CBP in a majority of individuals,. In 10% of cases a microdeletion in 16p13.3 affecting CBP is detected. We report on a patient with a de novo 345-480 kb micro-duplication the region, encompassing only CBP and TRAP1 This boy presented with various minor physical anomalies, moderate mental retardation, and an atrial septal defect, but none of the other typical characteristics of the Rubinstein-Taybi syndrome, Such as the broad thumbs and first toes or facial characteristics. This finding implicates CBP as one of the causative genes for the trisomy 16p13 syndrome, and indicates this is a contiguous gene syndrome. (c) 2007 Wiley-Liss, Inc.

引用

页码：2160 / 2164

页数：5

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