Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework
This study aims to enhance the understanding of the genetic and phenotypic spectrum of UPD(6)mat, improving diagnostic and management approaches for this ultra-rare genetic disorder. We propose a detailed list of clinical assessments and tests to be performed following the detection of maternal uniparental disomy of chromosome 6.
Authors
- Agnieszka Maryniak (ORCID: https://orcid.org/0000-0001-7213-6554)
- Patryk Lipiński (ORCID: https://orcid.org/0000-0002-1849-8375)
- Rafał Płoski (ORCID: https://orcid.org/0000-0001-6286-5526)
- Krzysztof Szczałuba (ORCID: https://orcid.org/0000-0001-8803-646X)
- Maria Franaszczyk (ORCID: https://orcid.org/0000-0002-0719-1933)
- Aleksandra Świeca
Institutions
- Medical University of Warsaw (PL)
- University of Warsaw (PL)
Publication Details
- Journal
- Genes
- Published
- 2025-04-05
- DOI
- https://doi.org/10.3390/genes16040434
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Warszawski Uniwersytet Medyczny
- Uniwersytet Warszawski