Article
Williams-Beuren syndrome: the prenatal phenotype.
American journal of obstetrics and gynecology - 1 Dec 2011
Popowski Thomas, Vialard François, Leroy Brigitte, Bault Jean Philippe, Molina-Gomes Denise
Abstract excerpt
Using prenatal BACs-on-Beads technology, the first prenatal case of Williams-Beuren syndrome (WBS) was diagnosed. In light of this result, an ultrasound scan confirmed the presence of well-characterized features of WBS. This case report emphasizes the fact that new genomic technologies will generate prenatal information and provide helpful additional information.
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