Department of Laboratory Medicine, Children's Hospital Boston, Boston, MA 02115, USA.
Clin Genet. 2012 Mar;81(3):257-64. doi: 10.1111/j.1399-0004.2011.01637.x. Epub 2011 Feb 7.
Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Many of these genomic imbalances have since been shown to associate with developmental delay, intellectual disability and congenital malformation. Here we identified five unrelated individuals who have a recurrent 1.71 Mb deletion/duplication at 2q13 (Human Genome Build 19: 111,392,197-113,102,594). Four of these individuals have developmental issues, four have cranial dysmorphism. Literature review revealed 14 more cases that had similar genomic imbalances at 2q13. Many of them had developmental delay and dysmorphism. Taken together, 93% and 63% of individuals with this genomic imbalance displayed impaired developmental skills and/or abnormal facial features respectively. This copy number variant (CNV) has not been reported in normal control databases. We, therefore, propose that CNV in this region is a risk factor for developmental delay and dysmorphism.
全基因组分析，如 array comparative genomic hybridization，已经确定了新的基因组失衡。其中许多基因组失衡已被证明与发育迟缓、智力残疾和先天性畸形有关。在这里，我们鉴定了五个无亲缘关系的个体，他们在 2q13 上存在反复出现的 1.71Mb 缺失/重复（人类基因组构建 19：111,392,197-113,102,594）。这四个个体都有发育问题，四个个体有颅面畸形。文献综述显示，14 例患者在 2q13 上也存在类似的基因组失衡。其中许多患者有发育迟缓及畸形。总的来说，93%和 63%的具有这种基因组失衡的个体分别表现出发育障碍和/或异常面部特征。这种拷贝数变异（CNV）在正常对照数据库中没有报道。因此，我们提出该区域的 CNV 是发育迟缓及畸形的风险因素。
