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

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

doi:10.3390/brainsci11010021

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

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

Azienda Ospedaliera S.G. Moscati

Research output: Contribution to journal › Article › peer-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.

Original language	English
Pages (from-to)	1-6
Number of pages	6
Journal	Brain Sciences
Volume	11
DOIs	https://doi.org/10.3390/brainsci11010021
Publication status	Published - 2021

Keywords

Epilepsy
Hemiparesis
Ischemic and haemorrhagic cerebral lesions
Partial trisomy 13q

Access to Document

10.3390/brainsci11010021

Cite this

@article{fa6a5b424de94e0da2510ceddc88315a,

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

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.",

keywords = "Epilepsy, Hemiparesis, Ischemic and haemorrhagic cerebral lesions, Partial trisomy 13q, Epilepsy, Hemiparesis, Ischemic and haemorrhagic cerebral lesions, Partial trisomy 13q",

author = "Claudia Brogna and Valentina Milano and Barbara Brogna and Lara Cristiano and Giuseppe Rovere and {De Sanctis}, Roberto and Romeo, {Domenico Marco} and Mercuri, {Eugenio Maria} and Giuseppe Zampino",

year = "2021",

doi = "10.3390/brainsci11010021",

language = "English",

volume = "11",

pages = "1--6",

journal = "Brain Sciences",

issn = "2076-3425",

publisher = "Basel : Molecular Diversity Preservation International",

}

TY - JOUR

T1 - De novo partial 13q22-q34 trisomy with typical neurological and immunological findings: A case report with new genetic insights

AU - Brogna, Claudia

AU - Milano, Valentina

AU - Brogna, Barbara

AU - Cristiano, Lara

AU - Rovere, Giuseppe

AU - De Sanctis, Roberto

AU - Romeo, Domenico Marco

AU - Mercuri, Eugenio Maria

AU - Zampino, Giuseppe

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - Epilepsy

KW - Hemiparesis

KW - Ischemic and haemorrhagic cerebral lesions

KW - Partial trisomy 13q

KW - Epilepsy

KW - Hemiparesis

KW - Ischemic and haemorrhagic cerebral lesions

KW - Partial trisomy 13q

UR - http://hdl.handle.net/10807/166758

U2 - 10.3390/brainsci11010021

DO - 10.3390/brainsci11010021

M3 - Article

SN - 2076-3425

VL - 11

SP - 1

EP - 6

JO - Brain Sciences

JF - Brain Sciences

ER -

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

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this