Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have migrated from conventional cytogenetic analysis to chromosomal microarrays as the first-tier genetic test for patients with this condition, this last technique was implemented in our country a few years ago. We report on the results of the implementation of chromosomal microarrays in a cohort of 133 patients with intellectual disability and dysmorphic features, normal karyotype and normal subtelomeric MLPA results in an Argentinean public health institution. Clinically relevant copy number variants were found in 12% of the patients and one or more copy number variants classified as variants of uncertain significance were found in 5.3% of them. Although the diagnostic yield of chromosomal microarrays is greater than conventional cytogenetics for these patients, there are financial limitations to adopt this technique as a first-tier test in our country, especially in the public health system.

智力障碍是一种涉及基因，表观遗传和环境因素的神经发育障碍。因此，其病因的确定通常很复杂。尽管许多国家已经从传统的细胞遗传学分析迁移到染色体微阵列，作为针对这种情况的患者的一线遗传测试，但是这种最后的技术是在几年前在我国实施的。我们报告了在133名智力残疾和畸形特征，正常核型和正常端粒亚基MLPA结果的患者队列中，在阿根廷公共卫生机构中实施染色体微阵列的结果。在12％的患者中发现了临床相关的拷贝数变异，在5.3％的患者中发现了一种或多种归类为不确定性变异的拷贝数变异。尽管对于这些患者，染色体微阵列的诊断率高于常规细胞遗传学，但在我国，尤其是在公共卫生系统中，采用该技术作为一线检测存在财务限制。