CHSJ

Curr Health Sci J, vol. 42, no. 2, 2016

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

[Case reports]

IOANA STREATA(1), SIMONA SERBAN-SOSOI(1), MAGDALENA BUDISTEANU(2), A. PIRVU(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



Corresponding: Mihai Ioana, MD, PhD, Human Genomics Laboratory, University of Medicine and Pharmacy Craiova, 1 Mai Avenue, No 66, Craiova-200638, Romania; Tel. +40 726 697596; e-mail: mihai.ioana@geneticamedicala.ro


DOI 10.12865/CHSJ.42.02.14 - Download PDF
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