Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome (pages 25–32)
Livia Marcato, Licia Turolla, Eva Pompilii, Celine Dupont, Nicolas Gruchy, Simona De Toffol, Gabriella Bracalente, Severine Bacrot, Enzo Troilo, Anne C. Tabet, Sabrina Rossi, Anne L. Delezoïde, Demetrio Baldo, Nathalie Leporrier, Federico Maggi, Arnaud Molin, Gianluigi Pilu, Giuseppe Simoni, Francois Vialard and Francesca R. Grati
Article first published online: 6 FEB 2014 | DOI: 10.1002/ccr3.48
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.