Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2024.486
Autopsy and Case Reports
Autopsy Case Report

Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

Wilker Dias Martins; Elisa França Chaves; Flavia Cristina Gonçalves de Aquino; Sean Brasil de Oliveira; Isabela Dorneles Pasa; Bruno Guimarães Marcarini; Vitor Ribeiro Paes; Chong Ae Kim; Regina Schultz

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Abstract

Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13. Autopsy microscopy studies identified leptomeningeal glioneuronal heterotopia, which was not described as belonging to Patau syndrome. Other atypical findings were diffuse hyperplasia of pancreatic islets of Langerhans and adrenals enlargement with marked adrenocortical cytomegaly, characteristically seen in the Beckwith-Wiedemann Spectrum. Molecular genetic tests were not performed for the Beckwith-Wiedemann Spectrum. Still, due to the rarity of both disorders, this report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders.

Keywords

Genetics, Aneuploidy, Autopsy, Pathology, Case Reports

References

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Submitted date:
01/21/2024

Accepted date:
03/25/2024

Publication date:
05/08/2024

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