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.

Translated title of the contributionEpilepsy with chromosomal abnormalities. A case report with deletion of long arm of the X chromosome: Association or occasional finding?
Original languageItalian
Pages (from-to)155-158
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number129-130
Publication statusPublished - 2005

ASJC Scopus subject areas

  • Clinical Neurology

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