Rare Case of a 20p13 Duplication Trisomy With Craniostenosis

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...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-06, Vol.16 (6), p.e61949-e61949
Main Authors: Rizea, Radu Eugen, Tataranu, Ligia Gabriela, Kamel, Amira, Ciurea, Alexandru Vladimir, Gheorghita, Karina Lidia
Format: Article
Language:English
Subjects:
Age
Behavior disorders
Case reports
Chromosomes
Convulsions & seizures
Cysts
Diabetes
Epilepsy
Genetic counseling
Genetic engineering
Genetic testing
Genetics
Intellectual disabilities
Metabolism
Neurosurgery
Patients
Pediatrics
Scoliosis
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Summary: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.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.61949