Frontiers in Genetics ( IF 3.7 ) Pub Date : 2024-04-02
Multiple genome sequencing studies have identified genetic abnormalities as major causes of severe intellectual disability (ID). However, many children affected by mild ID and borderline intellectual functioning (BIF) lack a genetic diagnosis because known causative ID genetic mutations have not been identified or the role of genetic variants in mild cases is less understood. Genetic variant testing in mild cases is necessary to provide information on prognosis and risk of occurrence. In this study, we report two sibling patients who were 5 years 9 months old and 3 years 3 months old and presented to the hospital due to developmental delay. Clinical assessment and chromosomal microarray analysis were performed. The patients were diagnosed with mild intellectual disability (ID) and borderline intellectual functioning (BIF). Genetic analysis identified a loss of 12p11.22, including the
中文翻译:
病例报告:两姐妹因 12p11.22 缺失而出现智力障碍和边缘智力功能
多项基因组测序研究已确定遗传异常是严重智力障碍 (ID) 的主要原因。然而,许多受轻度智力障碍和边缘智力功能 (BIF) 影响的儿童缺乏基因诊断,因为尚未确定已知的致病性智力障碍基因突变,或者遗传变异在轻度病例中的作用知之甚少。轻度病例的基因变异检测对于提供预后和发生风险的信息是必要的。在这项研究中,我们报告了两名兄弟姐妹患者,他们分别为 5 岁 9 个月和 3 岁 3 个月,因发育迟缓而到医院就诊。进行了临床评估和染色体微阵列分析。患者被诊断为轻度智力障碍(ID)和边缘智力功能(BIF)。遗传分析发现 12p11.22 缺失,包括