Brain pathology in human tetraploidy (92, XXYY): A case report

Abstract

Tetraploidy is a rare chromosomal abnormality that is typically lethal in utero, with limited data on its effects on brain development. A comprehensive neuropathologic study of a tetraploid newborn (92, XXYY) at a corrected gestational age of 30 weeks is presented. Findings included hippocampal hypoplasia, partial corpus callosum agenesis, and neuronal heterotopies. In addition, the cerebral cortex showed sparse neurons across all laminae, along with molecular and meningeal glioneuronal heterotopies. The periventricular region demonstrated dispersed germline neurons, and the cerebellum exhibited matrix cell heterotopies in the dentate nuclei and numerous migrating Purkinje cells in the white matter, indicating immaturity. These brain abnormalities may explain the severe developmental delays and intellectual impairment seen in surviving patients. Unlike other severely unbalanced chromosomal aberrations that typically result in major brain malformations, tetraploidy appears to have a less severe effect on brain development. This report expands the knowledge of brain abnormalities in tetraploidy.

Keywords

Tetraploidy / Polyploidy / Brain / Neuropathology / Development

Acknowledgments

Special thanks are extended to Luca Fabbiani, Ph.D for his valuable technical assistance.

Funding

None.

Conflict of interest

The authors declare that they have no competing interests.

Author contributions

Conceptualization: Elvio Della Giustina, Luca Reggiani Bonetti

Data curation: Elvio Della Giustina, Maria Carolina Gelli, Stefania Caramaschi, Tiziana Salviato

Formal analysis: Elvio Della Giustina, Luca Reggiani Bonetti, Tiziana Salviato

Investigation: Elvio Della Giustina

Project administration: Luca Reggiani Bonetti

Resources: Maria Carolina Gelli, Stefania Caramaschi

Supervision: Luca Reggiani Bonetti

Visualization: Tiziana Salviato

Writing-original draft: Elvio Della Giustina, Maria Carolina Gelli

Writing-review & editing: Elvio Della Giustina, Tiziana Salviato, Luca Reggiani Bonetti

Ethical approval and consent to participate

This study adheres to the ethical principles for medical research involving human subjects as outlined in the Helsinki Declaration of the World Medical Association. This manuscript does not need approval from the ethical committee of our university administration as it is not required for the publication of a single case of particular scientific interest (Regulations of the Ethical Committee of Area Vasta Emilia Nord, Italy, approved on September 22, 2020).

Consent for publication

Informed consent could not be obtained as the patient died many years ago; however, patient anonymity has been fully preserved.

Availability of data

Data are available from the authors upon reasonable request.

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