Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report

ABSTRACT: Williams-Beuren syndrome (WBS) (OMIM 194050) is caused by interstitial deletions or duplications of the 7q11.23 chromosomal region and characterised through a complex phenotype. We described a case diagnosed clinically and genetically confirmed through aCGH. Genetic assessment identified t...

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Detalles Bibliográficos
Autores principales: STREAȚĂ, I., ȘERBAN-ȘOȘOI, S., BUDIȘTEANU, M., PÎRVU, A., BURADA, F., MIXICH, F., IOANA, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical University Publishing House Craiova 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256167/
https://www.ncbi.nlm.nih.gov/pubmed/30568834
http://dx.doi.org/10.12865/CHSJ.42.02.14
Descripción
Sumario:ABSTRACT: Williams-Beuren syndrome (WBS) (OMIM 194050) is caused by interstitial deletions or duplications of the 7q11.23 chromosomal region and characterised through a complex phenotype. We described a case diagnosed clinically and genetically confirmed through aCGH. Genetic assessment identified three microdeletions with a total size of 1.35 Mb located at 7q11.23. The deleted regions encompasses more than 30 genes including several protein coding genes such as ELN, LIMK1, FZDS, WBSCR22, WBSCR27, WBSCR28, STX1A, CLDN3, CLDN4, LAT2, ABHD11 or EIF4H .

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