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

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 tim...

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Autores principales: Brogna, Claudia, Milano, Valentina, Brogna, Barbara, Cristiano, Lara, Rovere, Giuseppe, De Sanctis, Roberto, Romeo, Domenico M., Mercuri, Eugenio, Zampino, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823677/
https://www.ncbi.nlm.nih.gov/pubmed/33375380
http://dx.doi.org/10.3390/brainsci11010021
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author Brogna, Claudia
Milano, Valentina
Brogna, Barbara
Cristiano, Lara
Rovere, Giuseppe
De Sanctis, Roberto
Romeo, Domenico M.
Mercuri, Eugenio
Zampino, Giuseppe
author_facet Brogna, Claudia
Milano, Valentina
Brogna, Barbara
Cristiano, Lara
Rovere, Giuseppe
De Sanctis, Roberto
Romeo, Domenico M.
Mercuri, Eugenio
Zampino, Giuseppe
author_sort Brogna, Claudia
collection PubMed
description 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.
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spelling pubmed-78236772021-01-24 De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights Brogna, Claudia Milano, Valentina Brogna, Barbara Cristiano, Lara Rovere, Giuseppe De Sanctis, Roberto Romeo, Domenico M. Mercuri, Eugenio Zampino, Giuseppe Brain Sci Case Report 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. MDPI 2020-12-26 /pmc/articles/PMC7823677/ /pubmed/33375380 http://dx.doi.org/10.3390/brainsci11010021 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Brogna, Claudia
Milano, Valentina
Brogna, Barbara
Cristiano, Lara
Rovere, Giuseppe
De Sanctis, Roberto
Romeo, Domenico M.
Mercuri, Eugenio
Zampino, Giuseppe
De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights
title De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights
title_full De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights
title_fullStr De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights
title_full_unstemmed De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights
title_short De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights
title_sort de novo partial 13q22-q34 trisomy with typical neurological and immunological findings: a case report with new genetic insights
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823677/
https://www.ncbi.nlm.nih.gov/pubmed/33375380
http://dx.doi.org/10.3390/brainsci11010021
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