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

Domenico Marco Romeo, Eugenio Maria Mercuri, Giuseppe Zampino, Claudia Brogna, Valentina Milano, Lara Cristiano, Giuseppe Rovere, Roberto De Sanctis, Barbara Brogna

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

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.
Lingua originaleEnglish
pagine (da-a)1-6
Numero di pagine6
RivistaBrain Sciences
Volume11
DOI
Stato di pubblicazionePubblicato - 2021

Keywords

  • Epilepsy
  • Hemiparesis
  • Ischemic and haemorrhagic cerebral lesions
  • Partial trisomy 13q

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