Çetin Özdem Ertürk, Yalçınkaya Cengiz, Karaman Birsen, Demirbilek Veysi, Tüysüz Beyhan
Department of Neurology, Cerrahpasa Faculty of Medicine, Istanbul University.
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University.
Epileptic Disord. 2018 Jun 1;20(3):219-224. doi: 10.1684/epd.2018.0972.
Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2-21.1 duplication. The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmental delay, and dysmorphic features. Chromosome and array-CGH analysis revealed de novo 14q11.2-21.1 duplication, spanning ∼20 Mb (minimal interval chr14:20203610_40396835). The patient was followed up to 13 years of age, and at the last examination was shown to have severe speech delay, seizures, and continuous spike-and-wave activity on EEG. The possibility of this chromosomal abnormality should be kept in mind in patients with developmental delay, epilepsy, and hypsarrtyhmia, in the absence of any structural brain lesion or metabolic aetiology.
14号染色体长臂近端重复，包括位于14q12的FOXG1基因，是一种罕见疾病，其特征为发育迟缓、颅面部畸形、癫痫和严重语言发育迟缓。在此，我们报告1例韦斯特综合征患者，其染色体分析显示存在14q11.2-21.1重复。该患者因8个月大时出现婴儿痉挛症、运动发育迟缓及畸形特征而入院。染色体及阵列比较基因组杂交分析显示存在新发的14q11.2-21.1重复，跨度约20 Mb（最小区间为chr14:20203610_40396835）。该患者随访至13岁，最后一次检查显示存在严重语言发育迟缓、癫痫发作，脑电图显示有持续的棘慢复合波活动。对于发育迟缓、癫痫和高峰失律的患者，在没有任何结构性脑病变或代谢病因的情况下，应考虑到这种染色体异常的可能性。
