De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights

Brain Sciences

Valentina Milano¹  Giuseppe Rovere²  Claudia Brogna³  DomenicoM. Romeo³  Lara Cristiano³  Eugenio Mercuri³  RobertoDe Sanctis³  Giuseppe Zampino⁴  Barbara Brogna⁵ 

[1] Genetic Unit, Fondazione Policlinico Universitario A. Gemelli, IRCSS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy;Orthopedic Unit, Fondazione Policlinico Universitario “A. Gemelli”, IRCSS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy;Pediatric Neurology Unit, Fondazione Policlinico Universitario “A. Gemelli”, IRCSS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy;Pediatric Unit, Fondazione Policlinico Universitario “A. Gemelli”, IRCSS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy;Radiology Unit, S.G. Moscati Hospital, 83100 Avellino, Italy;

关键词: partial trisomy 13q;    hemiparesis;    epilepsy;    ischemic and haemorrhagic cerebral lesions;   

DOI  :  10.3390/brainsci11010021

来源: DOAJ

【 摘 要 】

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological 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 haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.

【 授权许可】

Unknown