Trisomia del braccio corto del cromosoma 12 e microdelezione del braccio corto del cromosoma 4: Aspetti clinici ed elettroenecefalografici

Translated title of the contribution: Trisomy of the short arm of chromosome 12 and microdeletion of the short arm of chromosome 4: Clinical and EEG features

M. Carrozzi, P. Costa, V. Pecile, A. Scabar, M. Zollino

Research output: Contribution to journalArticle

Abstract

A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported. While the general phenotype was consistent with "trisomy 12 p syndrome", the characteristics of the epilepsy were those described in Wolf-Hirschhorn syndrome (WHS). We hypotesized that the small deletion of the short arm chromosome 4, flanking the WHSCR region, could better define the distal limits of WHS genes.

Original languageItalian
Pages (from-to)251-254
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number121-122
Publication statusPublished - Jul 2003

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Wolf-Hirschhorn Syndrome
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 4
Trisomy
Electroencephalography
Epilepsy
Phenotype
Genes
Chromosome 4 short arm deletion

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

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abstract = "A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported. While the general phenotype was consistent with {"}trisomy 12 p syndrome{"}, the characteristics of the epilepsy were those described in Wolf-Hirschhorn syndrome (WHS). We hypotesized that the small deletion of the short arm chromosome 4, flanking the WHSCR region, could better define the distal limits of WHS genes.",
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T1 - Trisomia del braccio corto del cromosoma 12 e microdelezione del braccio corto del cromosoma 4

T2 - Aspetti clinici ed elettroenecefalografici

AU - Carrozzi, M.

AU - Costa, P.

AU - Pecile, V.

AU - Scabar, A.

AU - Zollino, M.

PY - 2003/7

Y1 - 2003/7

N2 - A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported. While the general phenotype was consistent with "trisomy 12 p syndrome", the characteristics of the epilepsy were those described in Wolf-Hirschhorn syndrome (WHS). We hypotesized that the small deletion of the short arm chromosome 4, flanking the WHSCR region, could better define the distal limits of WHS genes.

AB - A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported. While the general phenotype was consistent with "trisomy 12 p syndrome", the characteristics of the epilepsy were those described in Wolf-Hirschhorn syndrome (WHS). We hypotesized that the small deletion of the short arm chromosome 4, flanking the WHSCR region, could better define the distal limits of WHS genes.

KW - Epilepsy

KW - Trisomy 12P

KW - WHS Genes

KW - Wolf-Hirschhorn

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JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

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ER -