Callosal Dysgenesis

Keyword(s):  
2020 ◽  
Vol 11 (1) ◽  
pp. 21
Author(s):  
Claudia Brogna ◽  
Valentina Milano ◽  
Barbara Brogna ◽  
Lara Cristiano ◽  
Giuseppe Rovere ◽  
...  

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.


PLoS ONE ◽  
2016 ◽  
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Vladimir V. Lazarev ◽  
Myriam de Carvalho Monteiro ◽  
Rodrigo Vianna-Barbosa ◽  
Leonardo C. deAzevedo ◽  
Roberto Lent ◽  
...  
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2006 ◽  
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Neuroscience ◽  
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I Tobler

2016 ◽  
Vol 35 (4) ◽  
pp. 717-722 ◽  
Author(s):  
Ilona Lavender ◽  
Peter R. Coombs ◽  
Keith Van Haltren ◽  
Alice J. Robinson

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