Medical Genetics Unit, Department of Mother & Child, University Hospital of Modena, Via del Pozzo, 71, 41124 Modena, Italy.
Ital J Pediatr. 2014 Apr 28;40:39. doi: 10.1186/1824-7288-40-39.
Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs.
116 patients were included in the study. Data relative to the CNVs and to the patients' clinical features were analyzed for genotype/phenotype correlations.
27 patients (23.3%) presented pathogenic CNVs (21 deletions, 3 duplications and 3 cases with both duplications and deletions). Univariate analysis showed a significant association of the pathogenic CNVs with the early onset of symptoms (before 1 yr of age) and the presence of malformations and dysmorphisms. Logistic regression analysis showed a significant independent predictive value for diagnosing a pathogenic CNV for malformations (P = 0.002) and dysmorphisms (P = 0.023), suggesting that those features should address a-CGH analysis as a high-priority test for diagnosis.
阵列比较基因组杂交（a-CGH）已成为不明原因发育迟缓/智力障碍（DD/ID）患者的一线检查方法。尽管成本在逐步降低，但 a-CGH 仍然是一种昂贵且劳动密集型的技术：因此，需要定义最能从分析中受益的患者类别。本研究的目的是回顾性分析在摩德纳大学医院儿科门诊就诊的患有 DD/ID 的儿童的临床特征，通过单变量和多变量分析验证致病性 CNVs 的独立预测因子。
共纳入 116 例患者。对 CNVs 及患者临床特征相关数据进行分析，以验证基因型/表型相关性。
27 例患者（23.3%）存在致病性 CNVs（21 个缺失，3 个重复，3 个既有重复又有缺失）。单变量分析显示，致病性 CNVs 与症状早发（1 岁前）以及存在畸形和发育异常有显著关联。逻辑回归分析显示，畸形（P=0.002）和发育异常（P=0.023）对诊断致病性 CNV 具有显著的独立预测价值，表明这些特征应作为优先进行 a-CGH 分析的诊断检测。
