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.
Brogna, C., Milano, V., Brogna, B., Cristiano, L., Rovere, G., De Sanctis, R., Romeo, D. M., Mercuri, E. M., Zampino, G., De novo partial 13q22-q34 trisomy with typical neurological and immunological findings: A case report with new genetic insights, <<BRAIN SCIENCES>>, 2020; 11 (1): 1-6. [doi:10.3390/brainsci11010021] [http://hdl.handle.net/10807/166758]
De novo partial 13q22-q34 trisomy with typical neurological and immunological findings: A case report with new genetic insights
Brogna, Claudia;Milano, Valentina;Cristiano, Lara;Rovere, Giuseppe;De Sanctis, Roberto;Romeo, Domenico Marco;Mercuri, Eugenio Maria;Zampino, Giuseppe
2021
Abstract
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.
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