Epilessia e cromosomopatie. Descrizione di un caso clinico con delezione del braccio lungo del cromosoma X: Associazione o reperto occasionale?

Translated title of the contribution: Epilepsy with chromosomal abnormalities. A case report with deletion of long arm of the X chromosome: Association or occasional finding?

A. Bartocci, C. Tiacci, M. Elia, R. Rocchi, A. T. Cantisani, A. Ibba, G. Perticoni

Research output: Contribution to journalArticle

Abstract

This is the case of a young, 22 year-old woman, who has, since childhood, suffered from drug resistant epilepsy with critical EEG pattern and symptoms suggesting a frontal mesial lobe epilepsy (possibly right). Daughter of an epileptic woman with temporal lobe epilepsy, she also presents several dysmorphisms and slight mental retardation. An analysis of the patient's karyotype was performed on the lymphocytes obtained from peripheral blood (GTC and RHG bands) which revealed the deletion of the long arm of the X chromosome (46,XX, del (X) (q27→qter)). Repeated MRI of the brain, in particular of the front lobes, were normal. The issue is whether or not there is a relationship between chromosome abnormalities and epilepsy.

Original languageItalian
Pages (from-to)155-158
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number129-130
Publication statusPublished - 2005

Fingerprint

X Chromosome
Chromosome Aberrations
Epilepsy
Frontal Lobe Epilepsy
Temporal Lobe Epilepsy
Nuclear Family
Karyotype
Intellectual Disability
Electroencephalography
Lymphocytes
Brain
Drug Resistant Epilepsy

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Epilessia e cromosomopatie. Descrizione di un caso clinico con delezione del braccio lungo del cromosoma X : Associazione o reperto occasionale? / Bartocci, A.; Tiacci, C.; Elia, M.; Rocchi, R.; Cantisani, A. T.; Ibba, A.; Perticoni, G.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 129-130, 2005, p. 155-158.

Research output: Contribution to journalArticle

@article{4775f61a50ef41c680b52183fc3a0877,
title = "Epilessia e cromosomopatie. Descrizione di un caso clinico con delezione del braccio lungo del cromosoma X: Associazione o reperto occasionale?",
abstract = "This is the case of a young, 22 year-old woman, who has, since childhood, suffered from drug resistant epilepsy with critical EEG pattern and symptoms suggesting a frontal mesial lobe epilepsy (possibly right). Daughter of an epileptic woman with temporal lobe epilepsy, she also presents several dysmorphisms and slight mental retardation. An analysis of the patient's karyotype was performed on the lymphocytes obtained from peripheral blood (GTC and RHG bands) which revealed the deletion of the long arm of the X chromosome (46,XX, del (X) (q27→qter)). Repeated MRI of the brain, in particular of the front lobes, were normal. The issue is whether or not there is a relationship between chromosome abnormalities and epilepsy.",
keywords = "Association, Chromosome abnormalities, Epilepsy",
author = "A. Bartocci and C. Tiacci and M. Elia and R. Rocchi and Cantisani, {A. T.} and A. Ibba and G. Perticoni",
year = "2005",
language = "Italian",
pages = "155--158",
journal = "Bollettino - Lega Italiana contro l'Epilessia",
issn = "0394-560X",
publisher = "Lega Italiana contro l'Epilessia",
number = "129-130",

}

TY - JOUR

T1 - Epilessia e cromosomopatie. Descrizione di un caso clinico con delezione del braccio lungo del cromosoma X

T2 - Associazione o reperto occasionale?

AU - Bartocci, A.

AU - Tiacci, C.

AU - Elia, M.

AU - Rocchi, R.

AU - Cantisani, A. T.

AU - Ibba, A.

AU - Perticoni, G.

PY - 2005

Y1 - 2005

N2 - This is the case of a young, 22 year-old woman, who has, since childhood, suffered from drug resistant epilepsy with critical EEG pattern and symptoms suggesting a frontal mesial lobe epilepsy (possibly right). Daughter of an epileptic woman with temporal lobe epilepsy, she also presents several dysmorphisms and slight mental retardation. An analysis of the patient's karyotype was performed on the lymphocytes obtained from peripheral blood (GTC and RHG bands) which revealed the deletion of the long arm of the X chromosome (46,XX, del (X) (q27→qter)). Repeated MRI of the brain, in particular of the front lobes, were normal. The issue is whether or not there is a relationship between chromosome abnormalities and epilepsy.

AB - This is the case of a young, 22 year-old woman, who has, since childhood, suffered from drug resistant epilepsy with critical EEG pattern and symptoms suggesting a frontal mesial lobe epilepsy (possibly right). Daughter of an epileptic woman with temporal lobe epilepsy, she also presents several dysmorphisms and slight mental retardation. An analysis of the patient's karyotype was performed on the lymphocytes obtained from peripheral blood (GTC and RHG bands) which revealed the deletion of the long arm of the X chromosome (46,XX, del (X) (q27→qter)). Repeated MRI of the brain, in particular of the front lobes, were normal. The issue is whether or not there is a relationship between chromosome abnormalities and epilepsy.

KW - Association

KW - Chromosome abnormalities

KW - Epilepsy

UR - http://www.scopus.com/inward/record.url?scp=33645221631&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33645221631&partnerID=8YFLogxK

M3 - Articolo

AN - SCOPUS:33645221631

SP - 155

EP - 158

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

IS - 129-130

ER -