De novo partial 13q22-q34 trisomy with typical neurological and immunological findings: A case report with new genetic insights

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiolog-ical findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haem-orrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.