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

Author(s): Caroline Hart, Ellen Crushell, Padraic Curran, Clare Brenner, Bryan Lynch, Dirk J. Lefeber, Sally Ann Lynch, Patricia Fitzsimons, Ina Knerr

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.