Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico

Background: Williams syndrome (WS) is a genetically based disorder caused by deletion of elastin and contiguous genes on chromosome 7q11.23. This syndrome is characterized by multiorganic involvement with dysmorphic facial features and a distinctive cognitive profile. It is an interesting model for...

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Autores principales:	Aravena C,Teresa, Castillo T,Silvia, Carrasco C,Ximena, Mena G,Ismael, López C,Javier, Rojas O,Juan P, Rosemberg P,Carol, Schröter G,Carolina, Aboitiz D,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2002
Materias:	Cognition disorders In situ hybridization fluorescence Tomography emission-computed single-photon Williams syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000600005
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spelling	oai:scielo:S0034-988720020006000052014-08-20Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómicoAravena C,TeresaCastillo T,SilviaCarrasco C,XimenaMena G,IsmaelLópez C,JavierRojas O,Juan PRosemberg P,CarolSchröter G,CarolinaAboitiz D,Francisco Cognition disorders In situ hybridization fluorescence Tomography emission-computed single-photon Williams syndrome Background: Williams syndrome (WS) is a genetically based disorder caused by deletion of elastin and contiguous genes on chromosome 7q11.23. This syndrome is characterized by multiorganic involvement with dysmorphic facial features and a distinctive cognitive profile. It is an interesting model for elucidation of relationships between brain, cognition and genes. Patients have a visual-spatial cognition impaired with relative strengths in social and language abilities. Aim: To report clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients referred as WS. Patients and methods: Forty four patients, aged 2 to 17 years, with the clinical diagnosis of Williams syndrome were studied with fluorescence in situ hybridization (FISH). In three cases, electrophysiological and neuroimaging studies were performed. Result: The deletion was confirmed in 23 patients. In three patients with neurophysiological studies, event related potentials suggested a cognitive difficulty in detecting and processing visual stimuli. Magnetic resonance imaging showed normal brain morphology. SPECT showed hypoperfusion of the right frontal lobe and bilateral anterior cingulum hyperperfusion. Conclusions: There are functional alterations in the brains of patients with Williams, which may be related to the cognitive deficits (Rev Méd Chile 2002; 130: 631-37)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.130 n.6 20022002-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000600005es10.4067/S0034-98872002000600005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cognition disorders In situ hybridization fluorescence Tomography emission-computed single-photon Williams syndrome
spellingShingle	Cognition disorders In situ hybridization fluorescence Tomography emission-computed single-photon Williams syndrome Aravena C,Teresa Castillo T,Silvia Carrasco C,Ximena Mena G,Ismael López C,Javier Rojas O,Juan P Rosemberg P,Carol Schröter G,Carolina Aboitiz D,Francisco Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
description	Background: Williams syndrome (WS) is a genetically based disorder caused by deletion of elastin and contiguous genes on chromosome 7q11.23. This syndrome is characterized by multiorganic involvement with dysmorphic facial features and a distinctive cognitive profile. It is an interesting model for elucidation of relationships between brain, cognition and genes. Patients have a visual-spatial cognition impaired with relative strengths in social and language abilities. Aim: To report clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients referred as WS. Patients and methods: Forty four patients, aged 2 to 17 years, with the clinical diagnosis of Williams syndrome were studied with fluorescence in situ hybridization (FISH). In three cases, electrophysiological and neuroimaging studies were performed. Result: The deletion was confirmed in 23 patients. In three patients with neurophysiological studies, event related potentials suggested a cognitive difficulty in detecting and processing visual stimuli. Magnetic resonance imaging showed normal brain morphology. SPECT showed hypoperfusion of the right frontal lobe and bilateral anterior cingulum hyperperfusion. Conclusions: There are functional alterations in the brains of patients with Williams, which may be related to the cognitive deficits (Rev Méd Chile 2002; 130: 631-37)
author	Aravena C,Teresa Castillo T,Silvia Carrasco C,Ximena Mena G,Ismael López C,Javier Rojas O,Juan P Rosemberg P,Carol Schröter G,Carolina Aboitiz D,Francisco
author_facet	Aravena C,Teresa Castillo T,Silvia Carrasco C,Ximena Mena G,Ismael López C,Javier Rojas O,Juan P Rosemberg P,Carol Schröter G,Carolina Aboitiz D,Francisco
author_sort	Aravena C,Teresa
title	Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
title_short	Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
title_full	Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
title_fullStr	Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
title_full_unstemmed	Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
title_sort	síndrome de williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico
publisher	Sociedad Médica de Santiago
publishDate	2002
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000600005
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Síndrome de Williams: estudio clínico, citogenético, neurofisiológico y neuroanatómico

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