Abstract

Introduction

We evaluated the contribution of array comparative genomic hybridization (aCGH) to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings, but lacked a specific diagnosis.

Materials and methods

Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively.

Results

Of 155 patients, 77 copy number variations were detected and 50% (39/77) were considered causative. The aCGH’s final diagnostic rate was 25.1% (39/155).

Conclusion

With aCGH analysis, the diagnosis rate for patients with undiagnosed neurocognitive disturbances or dysmorphic syndrome may increase by 25–30%. If the phenotypic findings of the widely known neurocognitive disturbances cannot be identified during the initial clinical assessment, aCGH analysis may be beneficial.

中文翻译：

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阵列比较基因组杂交在神经系统疾病儿童中的诊断效用

摘要

介绍

我们评估了阵列比较基因组杂交 (aCGH) 对神经认知障碍或畸形儿童最终诊断的贡献，但缺乏特异性诊断。

材料和方法

回顾性审查了接受 aCGH 分析的神经认知障碍儿科患者的医疗档案。

结果

在 155 名患者中，检测到 77 个拷贝数变异，其中 50% (39/77) 被认为是致病的。aCGH 的最终诊断率为 25.1% (39/155)。

结论

通过 aCGH 分析，未确诊的神经认知障碍或畸形综合征患者的诊断率可能会提高 25-30%。如果在初始临床评估期间无法确定广为人知的神经认知障碍的表型发现，aCGH 分析可能是有益的。