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

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

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

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

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.

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
Original language	Italian
Pages (from-to)	251-254
Number of pages	4
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	121-122
Publication status	Published - Jul 2003

ASJC Scopus subject areas

Clinical Neurology

Cite this

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title = "Trisomia del braccio corto del cromosoma 12 e microdelezione del braccio corto del cromosoma 4: Aspetti clinici ed elettroenecefalografici",

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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month = jul,

language = "Italian",

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journal = "Bollettino - Lega Italiana contro l'Epilessia",

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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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AN - SCOPUS:1242317657

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SP - 251

EP - 254

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

IS - 121-122

ER -

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

Abstract

ASJC Scopus subject areas

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