P783: Identification of a novel variant in the MAD1L1 gene in an individual with mosaic variegated aneuploidy syndrome
The balanced rearrangement was identified in 2 other deletion-negative individuals with affected children.Two individuals with Dravet syndrome, known to carry the SCN1A deletion by panel testing, were found to only have the recombinant chromosome 2 with the approximately 525-kb deletion of 2q24.3.
Authors
- Veronica Ortiz (ORCID: https://orcid.org/0000-0002-6928-8458)
- Audra N. Iness (ORCID: https://orcid.org/0000-0001-5194-1319)
- Nichole Owen (ORCID: https://orcid.org/0000-0003-2691-3636)
- Haowei Du (ORCID: https://orcid.org/0000-0001-9052-1587)
- Monika Weisz‐Hubshman
Institutions
- Baylor College of Medicine (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103152
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00