Luo Hong, Xie Li, Wang Shou-Zheng, Chen Jin-Lan, Huang Can, Wang Jian, Yang Jin-Fu, Zhang Wei-Zhi, Yang Yi-Feng, Tan Zhi-Ping
Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province 410011, China.
Eur J Med Genet. 2012 Nov;55(11):646-9. doi: 10.1016/j.ejmg.2012.07.006. Epub 2012 Jul 31.
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.
最近，包含CHD7的8q12间质性重复被描述为一种新的微重复综合征。已有3例8q12重复的病例报告，具有共同的可识别表型：杜安异常、发育迟缓及面部畸形特征。我们通过单核苷酸多态性阵列（SNP-array）在一名患有生长发育迟缓、先天性心脏缺陷、耳部异常和斜颈的患者中，鉴定出8号染色体q12区域存在一个2.7 Mb的重复。据我们所知，这是迄今为止报告的最小重复。我们的研究结果支持这样一种观点，即CHD7拷贝数增加可能是8q12重复表型的基础。我们的研究与先前的研究共同表明，8q12重复可被定义为一种新型综合征。
