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Array comparative genome hybridization in patients with developmental delay: two example cases

机译：发育迟缓患者的阵列比较基因组杂交：两个例子

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Developmental delay is often a predictor of mental retardation (MR) or autism, two relatively frequent developmental disorders severely affecting intellectual and social functioning. The causes of these conditions remain unknown in most patients. They have a strong genetic component, but the specific genetic defects can only be identified in a fraction of patients. Recent developments in genomics supported the establishment of the causal link between copy number variants in the genomes of some patients and their affection. One of the techniques suitable for this analysis is array comparative genome hybridization, which can be used both for detailed mapping of chromosome rearrangements identified by classical cytogenetics and for the identification of novel submicroscopic gains or losses of genetic material. We illustrate the power of this approach in two patients. Patient 1 had a cytogenetically visible deletion of chromosome X and the molecular analysis was used to specify the gene content of the deletion and the prognosis of the child. Patient 2 had a seemingly normal karyotype and the analysis revealed a small recurrent deletion of chromosome 1 likely to be responsible for his phenotype. However, the genetic dissection of MR and autism is complicated by high heterogeneity of the genetic aberrations among patients and by broad variability of phenotypic effects of individual genetic defects.
机译：发育迟缓通常是智力低下（MR）或自闭症的预兆，这是两种相对频繁的发育障碍，严重影响智力和社会功能。在大多数患者中，这些病症的原因仍然未知。它们具有很强的遗传成分，但是特定的遗传缺陷只能在一部分患者中发现。基因组学的最新发展支持在某些患者基因组中拷贝数变异与他们的情感之间建立因果联系。适用于此分析的一种技术是阵列比较基因组杂交，既可用于详细绘制经典细胞遗传学鉴定的染色体重排图，又可用于鉴定遗传物质的新型亚显微损益。我们说明了这种方法在两名患者中的作用。患者1具有X染色体的细胞遗传学上可见的缺失，并且分子分析用于确定缺失的基因含量和儿童的预后。患者2的核型貌似正常，分析显示染色体1的少量反复缺失可能与他的表型有关。然而，由于患者之间遗传畸变的高度异质性以及单个遗传缺陷的表型效应的广泛差异，使得MR和自闭症的遗传解剖变得复杂。

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