Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
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DOI：
10.1016/j.ejmg.2012.07.006
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发表时间：
2012-11-01
影响因子：
1.9
通讯作者：
Tan, Zhi-Ping
中科院分区：
文献类型：
--
作者：
Luo, Hong;Xie, Li;Tan, Zhi-Ping
包括CHD 7在内的8 q12间质性重复最近被描述为一种新的微重复综合征。三个8 q12重复已被报道具有共同的可识别的表型：杜安异常，发育迟缓和畸形的面部特征。我们发现了一个2.7 Mb的重复染色体8 q12与SNP-阵列的患者生长迟缓，先天性心脏病，耳畸形和斜颈。据我们所知，这是迄今报告的最小的重复。我们的研究结果支持这样的观点，即增加拷贝数的CHD 7可能是8 q12重复表型的基础。本研究结合以往的研究结果，认为8 q12重复可以定义为一种新的综合征。(C)2012年Elsevier Masson SAS。All rights reserved.
Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear anomalies and torticollis. To our knowledge, this is the smallest duplication reported to date. Our findings support the notion that increased copy number of CHD7 may underlie the phenotype of the 8q12 duplication. Our study together with previous studies suggest that the 8q12 duplication could be defined as a novel syndrome. (C) 2012 Elsevier Masson SAS. All rights reserved.