Mosaic Ring 20 Syndrome
The diagnosis of mosaic ring 20 syndrome is via karyotype analysis. The current lag time from seizure onset to definitive diagnosis is 7.7 years. More widespread recognition of the distinctive clinical features of mosaic ring 20 syndrome should help shorten the diagnostic delay for affected individuals.
Authors
- William D. James (ORCID: https://orcid.org/0009-0007-6006-0856)
- Sarah Woodson
- John S. Barbieri (ORCID: https://orcid.org/0000-0002-5467-4102)
- Debby Cheng (ORCID: https://orcid.org/0000-0002-8360-9780)
- Mark P. Fitzgerald (ORCID: https://orcid.org/0000-0002-7121-0705)
- Sherry Ershadi (ORCID: https://orcid.org/0009-0005-9511-6202)
- Rudolf Roth (ORCID: https://orcid.org/0009-0006-1811-3187)
Institutions
- Children's Hospital of Philadelphia (US)
- Harvard University (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-07-16
- DOI
- https://doi.org/10.1212/nxg.0000000000200282
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82