P800: Methylation analysis and karyotyping as follow-up tests for females with FMR1 premutation and full mutation
For the first patient with the premutation, variable methylation patterns across different tissues make it challenging to assess the risk for fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND).
Authors
- Nicole Reeder (ORCID: https://orcid.org/0000-0002-7392-5464)
- Shane C. Quinonez (ORCID: https://orcid.org/0000-0002-8254-0216)
- Lauren Bienemann
- Kristin LeSueur
- L D Frazier
- Yang Chen (ORCID: https://orcid.org/0000-0002-9516-8134)
- Lina Shao (ORCID: https://orcid.org/0000-0002-2857-8774)
- Lynn Knudson-Horneber
- Heather Dietsch
Institutions
- University of Michigan (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103169
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00