A Novel de novo Translocation (derXt(X;13) (q25;q12.11)dn) Manifesting As A Phenotypic Overlap with A Glycosylation Disorder: A Case Report

Authors

  • Caroline Hart
  • Ellen Crushell
  • Padraic Curran
  • Clare Brenner
  • Bryan Lynch
  • Dirk J. Lefeber
  • Sally Ann Lynch
  • Patricia Fitzsimons
  • Ina Knerr

Abstract

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.

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Published

2025-08-22

How to Cite

Hart, C., Crushell, E., Curran, P., Brenner, C., Lynch, B., Lefeber, D. J., … Knerr, I. (2025). A Novel de novo Translocation (derXt(X;13) (q25;q12.11)dn) Manifesting As A Phenotypic Overlap with A Glycosylation Disorder: A Case Report. Archives of Clinical and Medical Case Reports, 9(4), 171–174. Retrieved from https://fortunejournals.org/ojs/index.php/acmcr/article/view/23007

Issue

Vol. 9 No. 4 (2025): Volume 9, Issue 4

Section

Articles