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

被引：1

作者：

Brogna, Claudia ^{[1
,2
]}

Milano, Valentina ^{[3
,4
]}

Brogna, Barbara ^{[5
]}

Cristiano, Lara ^{[1
]}

Rovere, Giuseppe ^{[6
]}

De Sanctis, Roberto ^{[1
]}

Romeo, Domenico M. ^{[1
]}

Mercuri, Eugenio ^{[1
]}

Zampino, Giuseppe ^{[7
]}

机构：

[1] Univ Cattolica Sacro Cuore, Pediat Neurol Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

[2] ASL Avellino, Neuropsychiat Unit, I-83100 Avellino, Italy

[3] Univ Cattolica Sacro Cuore, Genet Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

[4] Sapienza Univ, Pediat Unit, I-00100 Rome, Italy

[5] SG Moscati Hosp, Radiol Unit, I-83100 Avellino, Italy

[6] Univ Cattolica Sacro Cuore, Orthoped Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

[7] Univ Cattolica Sacro Cuore, Pediat Unit, Fdn Policlin Univ A Gemelli, IRCSS, I-00168 Rome, Italy

来源：

BRAIN SCIENCES | 2021年 / 11卷 / 01期

关键词：

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

D O I：

10.3390/brainsci11010021

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

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.

引用

页码：1 / 6

页数：6

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