Phenotype and Genotype in a Taiwanese Girl with Sotos Syndrome

Wei-De Lin, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan
Chung-Hsing Wang, Division of Genetics and Metabolism, Children’s Hospital of China Medical University, Taichung, Taiwan
Fuu-Jen Tsai, Division of Genetics and Metabolism, Children’s Hospital of China Medical University, Taichung, Taiwan
I-Ching Chou, Graduate Institute of Integrated Medicine, China Medical University, Taichung, TaiwanFollow

Abstract

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.

Recommended Citation

Lin, Wei-De; Wang, Chung-Hsing; Tsai, Fuu-Jen; and Chou, I-Ching (2022) "Phenotype and Genotype in a Taiwanese Girl with Sotos Syndrome," BioMedicine: Vol. 12 : Iss. 3 , Article 2.
DOI: 10.37796/2211-8039.1372