Hy Ivanov, V Stoyanova, I Ivanov, A Linev, R Vazharova, S Ivanov, L Balabanski, D Toncheva
Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Plovdiv, Bulgaria.
Department of Medical Genetics, University Hospital "St. George," Plovdiv, Bulgaria.
Balkan J Med Genet. 2018 Dec 31;21(2):59-62. doi: 10.2478/bjmg-2018-0021. eCollection 2018 Dec.
Intellectual disability is affecting 3.0-4.0% of the general population. Copy number variants (CNVs) are a significant cause leading to neurodevelopmental disorders such as intellectual disability, epilepsy, autism spectrum disorders and developmental delay. The use of single nucleotide polymorphism (SNP)-array and array comparative genomic hybridization (aCGH) as diagnostic tools has led to the recognition of new microdeletion/microduplication syndromes associated with neurodevelopmental disorders. It is also useful for further characterization of marker chromosomes. Here, we report a girl with mild intellectual disability and mild facial dysmorphisms. Cytogenetic analysis showed a marker chromosome in some percent of the cells and was followed by SNP-array karyotyping that detected, in addition, a 9655 Mb interstitial deletion at 9q21.1-9q21.2.
智力残疾影响着3.0%-4.0%的普通人群。拷贝数变异（CNV）是导致神经发育障碍如智力残疾、癫痫、自闭症谱系障碍和发育迟缓的一个重要原因。使用单核苷酸多态性（SNP）阵列和阵列比较基因组杂交（aCGH）作为诊断工具已促使人们认识到与神经发育障碍相关的新的微缺失/微重复综合征。它对于标记染色体的进一步特征分析也很有用。在此，我们报告一名患有轻度智力残疾和轻度面部畸形的女孩。细胞遗传学分析显示部分细胞中存在一条标记染色体，随后进行的SNP阵列核型分析还检测到9号染色体长臂2区1带至2区2带存在一个9655 Mb的间质性缺失。
