PDF(Pubmed)
Abstract：
Duplication 20p or partial trisomy 20 is a rare chromosomal anomaly characterized by duplication of the short arm of chromosome 20, with various clinical abnormalities. Despite complete trisomy 20, which usually leads to prenatal death, partial trisomy 20 can manifest with variable phenotypes, from mild to severe manifestations. Here, we present a rare case of an 8-year-old boy diagnosed with trisomy 20, epilepsy with focal seizures of genetic origin, craniosynostosis, type 1 diabetes, and autism spectrum disorder. Duplication 20p is a complex diagnostic and presents a therapeutic challenge due to its diverse clinical manifestations. To succeed in the intricacy of such a unique and challenging case, a comprehensive clinical and genetic assessment must be performed.
摘要：
重复20p或部分三体性20是一种罕见的染色体异常，其特征是20号染色体的短臂重复，具有各种临床异常。尽管完全三体20，这通常会导致产前死亡，部分三体20可以表现为不同的表型，从轻度到严重的表现。这里,我们提出了一个罕见的病例，一个8岁的男孩被诊断为20三体，癫痫与遗传起源的局灶性癫痫发作，颅骨融合症,1型糖尿病,和自闭症谱系障碍。重复20p是一种复杂的诊断，由于其不同的临床表现，因此提出了治疗挑战。为了在如此独特和具有挑战性的案例中取得成功，必须进行全面的临床和遗传评估.
