Rare Case of a 20p13 Duplication Trisomy With Craniostenosis

TL;DR

This paper reports a rare case of a child with a 20p13 duplication trisomy and multiple health issues, highlighting the complexity of diagnosis and treatment.

Contribution

The paper presents a unique case of partial trisomy 20 with craniostenosis and multiple comorbidities.

Findings

The patient exhibited epilepsy, craniosynostosis, diabetes, and autism.

Partial trisomy 20 can lead to diverse and severe clinical manifestations.

Comprehensive genetic and clinical evaluation is essential for managing such cases.

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.

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