A Novel de novo Translocation (derXt(X;13) (q25;q12.11)dn) Manifesting As A Phenotypic Overlap with A Glycosylation Disorder: A Case Report
We describe a novel de novo translocation (derXt(X;13)(q25;q12.11)dn) manifesting as a phenotypic overlap with a Congenital Disorder of Glycosylation (CDG) in a 7-year-old girl. We characterize the clinical, biochemical and neuro-radiological phenotype of this unique and hitherto undescribed translocation, and discuss etiologic aspects in the context of a phenotypic overlap with a CDG.
Authors
- Ina Knerr (ORCID: https://orcid.org/0000-0002-4015-0658)
- Ellen Crushell (ORCID: https://orcid.org/0000-0003-3768-8569)
- Clare Brenner
- Patricia Fitzsimons (ORCID: https://orcid.org/0000-0003-0706-2952)
- Philip Curran
- Sally Ann Lynch (ORCID: https://orcid.org/0000-0003-3540-1333)
- Dirk J. Lefeber (ORCID: https://orcid.org/0000-0001-7770-8398)
- Caroline Hart (ORCID: https://orcid.org/0000-0002-9629-0713)
- Bryan Lynch
Publication Details
- Journal
- Archives of Clinical and Medical Case Reports
- Published
- 2025-01-01
- DOI
- https://doi.org/10.26502/acmcr.96550728
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00