Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
Version of Record online: 6 FEB 2014
© 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
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Clinical Case Reports
Volume 2, Issue 2, pages 25–32, April 2014
How to Cite
Clinical Case Reports 2014; 2(2): 25–32
- Issue online: 9 APR 2014
- Version of Record online: 6 FEB 2014
- Manuscript Accepted: 3 JAN 2014
- Manuscript Received: 10 SEP 2013
- Array CGH;
- prenatal BACs on beads;
- Williams–Beuren critical region.
Key Clinical Message
Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.