Lin Wei-De, Wang Chung-Hsing, Tsai Fuu-Jen, Chou I-Ching
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
Biomedicine (Taipei). 2022 Sep 1;12(3):5-11. doi: 10.37796/2211-8039.1372. eCollection 2022.
Rare copy number variations have been linked to an important source of mutation in many psychopathological traits and neurodevelopmental disorders. In this study, we describe a Taiwanese girl with mental retardation and mild macrocephaly who underwent a childhood psychological evaluation for several years first. When she was 5 years old, she came to our hospital for further diagnosis. We conducted molecular cytogenetic tests and confirmed she actually has Sotos syndrome. We compared our case with two others with very similar deletion regions, but their phenotypes were heterogeneous. Sotos syndrome is very rare in Taiwan, and it is suggested that genetic analysis should be considered early if symptoms of this case are observed.
罕见的拷贝数变异与许多精神病理学特征和神经发育障碍中的一个重要突变来源有关。在本研究中，我们描述了一名患有智力障碍和轻度巨头畸形的台湾女孩，她首先接受了数年的儿童心理评估。5岁时，她来到我院进行进一步诊断。我们进行了分子细胞遗传学检测，证实她实际上患有索托斯综合征。我们将我们的病例与另外两个缺失区域非常相似的病例进行了比较，但他们的表型是异质性的。索托斯综合征在台湾非常罕见，建议如果观察到该病例的症状，应尽早考虑进行基因分析。
