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Revista médica de Chile

versión impresa ISSN 0034-9887


ARAVENA C, Teresa et al. Williams syndrome: Clinical, cytogenetic, neurophysiological and neuroanatomic features in 44 patients. Rev. méd. Chile [online]. 2002, vol.130, n.6, pp.631-637. ISSN 0034-9887.

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)

Palabras clave : Cognition disorders; In situ hybridization; fluorescence; Tomography; emission-computed; single-photon; Williams syndrome.

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