TY - JOUR
T1 - De novo partial 13q22-q34 trisomy with typical neurological and immunological findings: A case report with new genetic insights
AU - Brogna, C.
AU - Milano, V.
AU - Brogna, B.
AU - Cristiano, L.
AU - Rovere, G.
AU - De, Sanctis R.
AU - Romeo, Domenico Marco Maurizio
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 - https://publicatt.unicatt.it/handle/10807/166758
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85098752474&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85098752474&origin=inward
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
IS - 1
ER -