Department of Cytogenetics, Christian Medical College and Hospital, Vellore, India.
Department of Neurological Sciences, Christian Medical College and Hospital, Vellore, India.
Fetal Pediatr Pathol. 2022 Apr;41(2):208-218. doi: 10.1080/15513815.2020.1791292. Epub 2020 Jul 23.
To evaluate the chromosomal microarray (CMA) yield among children who presented with global developmental delay/intellectual disability (GDD/ID) with/without co-occurring conditions. The pathogenic copy number variation (pCNVs) findings on CMA of all children who presented with unexplained GDD/ID were categorized based on the clinical features. The karyotype results were compared with CMA. The overall pCNV yield in children presenting with GDD/ID with or without comorbid conditions constituted 20.9%. Among the 17 pCNVs, 13 were losses and four were gains. Cardiac defect was the only co-morbidity in our study that demonstrated statistically significant prediction for pCNV (odds ratio 6.13, p value- 0.031). Six children who were karyotyped prior to CMA testing showed a structural abnormality. In our study, 20.9% of children with GDD/ID showed pCNVs on CMA. Cardiac defect alongside GDD/ID, emerged as the single strongest phenotype associated with pCNVs. CMA also provided vital information in previously karyotyped patients.
为了评估伴有/不伴有共病的全面发育迟缓/智力障碍（GDD/ID）患儿中染色体微阵列（CMA）的检出率。对所有表现为不明原因 GDD/ID 的患儿的 CMA 上致病性拷贝数变异（pCNVs）发现结果，基于临床特征进行分类。比较核型结果与 CMA。伴有或不伴有合并症的 GDD/ID 患儿的总体 pCNV 检出率为 20.9%。在 17 个 pCNVs 中，13 个是缺失，4 个是增益。在我们的研究中，心脏病是唯一具有统计学意义的 pCNV 预测共病（比值比 6.13，p 值为 0.031）。在 CMA 检测之前进行核型分析的 6 名患儿显示出结构异常。在我们的研究中，20.9%的 GDD/ID 患儿在 CMA 上显示出 pCNVs。心脏病与 GDD/ID 一起，是与 pCNVs 相关的唯一最强表型。CMA 还为之前核型分析过的患者提供了重要信息。
