Home Archive Vol.42, No.2, 2016 Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report

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

IOANA STREAȚĂ(1), Simona Șerban-Șoșoi(1), Magdalena Budișteanu(2), A. Pîrvu(1), F. Burada(1), F. Mixich(1), M. IOANA(1)

(1)Human Genomics Laboratory-University of Medicine and Pharmacy Craiova, Craiova, Romania, (2)Alexandru Obregia Clinical Hospital of Psychiatry, Neuropediatric Pathology, Bucharest, Romania

    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 .
    Keywords: array CGH, 7q11.23 microdeletion, Williams-Beuren syndrome, global developmental delay

DOI 10.12865/CHSJ.42.02.14 


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Volume 42 Issue 2 2016