PDF(Pubmed)
Abstract：
Background: Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations involving key genes implicated in the stages of Early Embryonic Development. In this context, we report a 10 years old Tunisian patient with these three signs. Our objective is to determine the cause of developmental, behavioral and facial abnormalities in this patient. Methods: We used banding cytogenetics (karyotype) and Array Comparative Genomic Hybridization (Array CGH) to this purpose. Results: The karyotype was in favor of a derivative of chromosome 7 in the patient and Array CGH analysis revealed a loss of genetic material in 7p22.3-p22.1 (4,56 Mb) with a gain at 8q24.23-q24 (9.20 Mb) resulting from maternal 7/8 reciprocal translocation. An in silico analysis of the unbalanced region was carried out and showed that the 7p22.3-p22.1 deletion contains eight genes. Among them, BRAT1 gene, previously described in several neurodevelopmental diseases, may be a candidate gene which absence could be correlated to the patient\'s phenotype. However, the 8q24.23-q24 duplication could be involved in the phenotype of this patient. Conclusion: In this study, we report for the first time a 7p deletion/8q duplication in a patient with psychomoteur delay, epilepsy and facial dysmorphism. Our study showed that Array CGH still useful for delivering a conclusive genetic diagnosis for patients having neurodevelopmental abnormalities in the era of next-generation sequencing.
摘要：
背景：精神运动延迟，癫痫和畸形特征是由于涉及早期胚胎发育阶段的关键基因的染色体失衡或突变而在多种综合征中描述的临床体征。在这种情况下，我们报告了一名10岁的突尼斯患者，有这三种症状。我们的目标是确定发展的原因，该患者的行为和面部异常。方法：为此，我们使用了显带细胞遗传学（核型）和阵列比较基因组杂交（阵列CGH）。结果：核型有利于患者7号染色体的衍生物，ArrayCGH分析显示7p22.3-p22.1（4,56Mb）中的遗传物质丢失，并在8q24.23-q24（9.20Mb）处增加母体7/8相互易位。对不平衡区域进行了计算机模拟分析，结果表明7p22.3-p22.1缺失包含八个基因。其中,BRAT1基因,先前在几种神经发育疾病中描述过，可能是一个候选基因，其缺失可能与患者的表型相关。然而,8q24.23-q24重复可能与该患者的表型有关.结论：在这项研究中，我们首次报道了一名精神病患者的7p缺失/8q重复，癫痫和面部畸形。我们的研究表明，在下一代测序时代，ArrayCGH仍然可用于为患有神经发育异常的患者提供决定性的遗传诊断。
