Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report.
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SUBMITTER: Streata I
PROVIDER: S-EPMC6256167 | biostudies-literature | 2016 Apr-Jun
REPOSITORIES: biostudies-literature
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Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report.
Streață I I Șerban-Șoșoi S S Budișteanu M M Pîrvu A A Burada F F Mixich F F Ioana M M
Current health sciences journal 20160401 2
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 ...[more]
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2010-05-26 | GSE19730 | GEO