{Reference Type}: Journal Article
{Title}: Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report.
{Author}: Streață I;Șerban-Șoșoi S;Budișteanu M;Pîrvu A;Burada F;Mixich F;Ioana M;
{Journal}: Curr Health Sci J
{Volume}: 42
{Issue}: 2
{Year}: Apr-Jun 2016
暂无{DOI}: 10.12865/CHSJ.42.02.14
{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 .