A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome

dc.creatorDelgado, L M
dc.creatorGutierrez, M.
dc.creatorAugello, B
dc.creatorFusco, C
dc.creatorMicale, L
dc.creatorMerla, G
dc.creatorPastene, E. A.
dc.date2020-11-20T00:20:21Z
dc.date2020-11-20T00:20:21Z
dc.date2013-03
dc.date.accessioned2023-08-29T20:07:05Z
dc.date.available2023-08-29T20:07:05Z
dc.identifier1661-8769
dc.identifierhttp://sgc.anlis.gob.ar/handle/123456789/1694
dc.identifier10.1159/000347167
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8519478
dc.descriptionFil: Delgado, L.M. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
dc.descriptionFil: Gutierrez, M. Hospital General de Niños Dr. Pedro Elizalde. Servicio de Genética; Buenos aires, Argentina.
dc.descriptionFil: Augello, B. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
dc.descriptionFil: Fusco, C. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
dc.descriptionFil: Micale, L. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
dc.descriptionFil: Merla, G. IRCCS Casa Sollievo della Sofferenza Hospital. Unidad de medicina genética; San Giovanni Rotondo, Italia.
dc.descriptionFil: Pastene, E.A. ANLIS Dr. Carlos G. Malbrán. Centro Nacional de Genética Médica (CENAGEM); Argentina.
dc.descriptionWilliams-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.
dc.formatPDF
dc.languageen
dc.relationMolecular syndromology
dc.rightsopen
dc.subjectVariación Estructural del Genoma
dc.subjectDuplicaciones Segmentarias en el Genoma
dc.subjectSíndrome de Williams
dc.titleA 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome
dc.typeArtículo


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