U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy.
U.O Pediatria, Azienda Ospedaliera Universitaria Pisana, Università di Pisa, Italy.
Seizure. 2018 Jul;59:38-40. doi: 10.1016/j.seizure.2018.04.016. Epub 2018 Apr 26.
Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.
13 号染色体长臂末端缺失较为罕见，且细胞遗传学研究特征较差，导致难以进行基因型-表型相关性分析。我们报道了两例存在全身性癫痫、智力障碍和泌尿生殖系统缺陷的同胞。阵列 CGH 检测到 13q34 处的 1.3Mb 缺失；它包含两个编码蛋白的基因，SOX1 和 ARHGEF7，其杂合性缺失可能导致癫痫表型。
