Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report
While cognitive decline has not been previously reported in ATR-16 syndrome, this may be another feature of the condition that is subject to variable expressivity. Taking this together with the apparent increased prevalence of dementia in other neurodevelopmental conditions, we hypothesize that individuals with ATR-16 syndrome may be predisposed to early cognitive decline.
Authors
- Angela Krutish (ORCID: https://orcid.org/0000-0002-6010-6339)
- Cheryl R. Greenberg (ORCID: https://orcid.org/0000-0002-4741-8442)
- Felippe Borlot (ORCID: https://orcid.org/0000-0001-7897-4700)
- Patrick Frosk (ORCID: https://orcid.org/0000-0002-9673-795X)
- Aizeddin A. Mhanni
- Rebekah Kukurudz-Gorowski
Institutions
- University of Calgary (CA)
- Children's Hospital Research Institute of Manitoba (CA)
- University of Manitoba (CA)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-19
- DOI
- https://doi.org/10.3389/fgene.2025.1595298
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Genome Canada
- Hospital for Sick Children