title: Williams-Beuren syndrome: the prenatal phenotype.
abstract: 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.
authors: Department of Cytogenetics, Fetal Pathology, Obstetrics and Gynaecology, Poissy Saint-Germain-en-Laye Hospital and Versailles Saint-Quentin-en-Yvelines University, Versailles, France. thomas.popof@wanadoo.fr
authors: Thomas
authors: T
authors: Popowski
authors: François
authors: F
authors: Vialard
authors: Brigitte
authors: B
authors: Leroy
authors: Jean Philippe
authors: JP
authors: Bault
authors: Denise
authors: D
authors: Molina-Gomes
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014463:Ultrasonography; D018980:Williams Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D055815:Young Adult