New diagnostic approach for malformation syndromes and genome-wide search for syndrome specific genome imbalance using DNA microarray

我们开发了一种诊断阵列（基因组紊乱阵列），以排除已知染色体微缺失和微重复综合征患者的结构性染色体畸变。选择基因组紊乱阵列3.0版本确定配置。富士胶片公司以GD700的名字发布了这个阵列。特异表型可能导致一种新的疾病概念的构建。根据表型分析和高密度BAC阵列分析，我们提出了三种新的特异性染色体畸变综合征。我们在三年内收集了281例病例，并开始建立细胞系。

We developed a diagnostic array(Genome Disorder Array) in order to exclude structural chromosome aberrations in patients with known chromosomal micro-deletion and micro-duplication syndromes. Genome Disorder Array version 3.0 was selected to determine the configuration. Fuji Film was released this array as the GD700. Specific phenome may lead to the construction of a new disease concept. According to phenome analysis and high-density BAC array analysis, we proposed three new syndromes with specific chromosome aberration. We collected 281 cases in three years and also proceed to establish the cell-line.