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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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
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author STREAȚĂ, I.
ȘERBAN-ȘOȘOI, S.
BUDIȘTEANU, M.
PÎRVU, A.
BURADA, F.
MIXICH, F.
IOANA, M.
author_facet STREAȚĂ, I.
ȘERBAN-ȘOȘOI, S.
BUDIȘTEANU, M.
PÎRVU, A.
BURADA, F.
MIXICH, F.
IOANA, M.
author_sort STREAȚĂ, I.
collection PubMed
description 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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spelling pubmed-62561672018-12-19 Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report STREAȚĂ, I. ȘERBAN-ȘOȘOI, S. BUDIȘTEANU, M. PÎRVU, A. BURADA, F. MIXICH, F. IOANA, M. Curr Health Sci J 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 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 . Medical University Publishing House Craiova 2016 2016-06-28 /pmc/articles/PMC6256167/ /pubmed/30568834 http://dx.doi.org/10.12865/CHSJ.42.02.14 Text en Copyright © 2016, Medical University Publishing House Craiova http://creativecommons.org/licenses/by-nc-sa/4.0/ This is an open-access article distributed under the terms of a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Public License, which permits unrestricted use, adaptation, distribution and reproduction in any medium, non-commercially, provided the new creations are licensed under identical terms as the original work and the original work is properly cited.
spellingShingle Case Report
STREAȚĂ, I.
ȘERBAN-ȘOȘOI, S.
BUDIȘTEANU, M.
PÎRVU, A.
BURADA, F.
MIXICH, F.
IOANA, M.
Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
title Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
title_full Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
title_fullStr Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
title_full_unstemmed Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
title_short Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
title_sort array cgh - a powerful tool in molecular diagnostic of pathogenic microdeletions - williams-beuren syndrome - a case report
topic Case Report
url 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
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