Mosaicismo 18p-: Aspetti clinici e neurofisiologici

Translated title of the contribution: 18p- mosaicism: Clinical and neurophysiological features

L. Radice, C. Zucca, A. De Giuli, S. Franceschetti

Research output: Contribution to journalArticle

Abstract

We report on a 13 months old girl with multiple anomalies on physical examination, asymmetric hypsarrhythmia with atypical spasm and partial seizures, cortical dysplasia and partial deletion of the short arm of chromosome 18 (18p-). Further investigations on similar cases may provide additional insights about the genotype/phenotype and cortical dysgenesis relationships of specific chromosome segments.

Original languageItalian
Pages (from-to)391-392
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number95-96
Publication statusPublished - 1996

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ASJC Scopus subject areas

  • Clinical Neurology

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