Liang Jao-Shwann, Shimojima Keiko, Yamamoto Toshiyuki
International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Taiwan.
Pediatr Neonatol. 2008 Dec;49(6):213-7. doi: 10.1016/S1875-9572(09)60013-9.
Children with developmental delay or mental retardation (DD/MR) are commonly encountered in child neurology clinics, and establishing an etiologic diagnosis is a challenge for child neurologists. Among the etiologies, chromosomal imbalance is one of the most important causes. However, many of these chromosomal imbalances are submicroscopic and cannot be detected by conventional cytogenetic methods. Microarray-based comparative genomic hybridization (array CGH) is considered to be superior in the investigation of chromosomal deletions or duplications in children with DD/MR, and has been demonstrated to improve the diagnostic detection rate for these small chromosomal abnormalities. Here, we review the recent studies of array CGH in the evaluation of patients with idiopathic DD/MR.
发育迟缓或智力障碍（DD/MR）儿童在儿童神经科门诊中很常见，对于儿童神经科医生来说，确立病因诊断是一项挑战。在病因中，染色体失衡是最重要的原因之一。然而，这些染色体失衡中的许多是亚微观的，无法通过传统细胞遗传学方法检测到。基于微阵列的比较基因组杂交（array CGH）在DD/MR儿童染色体缺失或重复的研究中被认为具有优势，并且已被证明可提高这些小染色体异常的诊断检出率。在此，我们综述了array CGH在特发性DD/MR患者评估中的最新研究。
