Please use this identifier to cite or link to this item: http://sgc.anlis.gob.ar/handle/123456789/1694
Title: A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
Authors: Delgado, L M 
Gutierrez, M. 
Augello, B 
Fusco, C 
Micale, L 
Merla, G 
Pastene, E. A. 
Keywords: Variación Estructural del Genoma;Duplicaciones Segmentarias en el Genoma;Síndrome de Williams
Issue Date: Mar-2013
Journal: Molecular syndromology 
Abstract: 
Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren syndrome. Among them, haploinsufficiency of the ELN gene has been shown to cause the cardiovascular anomalies. Identification of patients with atypical deletions has provided valuable information for genotype-phenotype correlation, in which other genes such as LIMK1,CLIP2, GTF2IRD1, or GTF2I have been correlated with specific cognitive profiles or craniofacial features. Here, we report the clinical and molecular characteristics of a patient with an atypical deletion that does not include the GTF2I gene and only partially includes the GTF2IRD1 gene.
Description: 
Fil: Delgado, L.M. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.

Fil: Gutierrez, M. Hospital General de Niños Dr. Pedro Elizalde. Servicio de Genética; Buenos aires, Argentina.

Fil: Augello, B. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.

Fil: Fusco, C. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.

Fil: Micale, L. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.

Fil: Merla, G. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.

Fil: Pastene, E.A. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
URI: http://sgc.anlis.gob.ar/handle/123456789/1694
ISSN: 1661-8769
DOI: 10.1159/000347167
Rights: Open Access
Creative Commons Atribution 4.0 International License
Appears in Collections:Publicaciones CeNaGeM

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