Williams-Beuren syndrome: the prenatal phenotype.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22000898.
- Also identified by DOI 10.1016/j.ajog.2011.09.017.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Genetic Testing
- Prenatal Diagnosis
- Williams Syndrome