Open AccessPrenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
Author(s) -
Marcato Livia,
Turolla Licia,
Pompilii Eva,
Dupont Celine,
Gruchy Nicolas,
De Toffol Simona,
Bracalente Gabriella,
Bacrot Severine,
Troilo Enzo,
Tabet Anne C.,
Rossi Sabrina,
Delezoïde Anne L.,
Baldo Demetrio,
Leporrier Nathalie,
Maggi Federico,
Molin Arnaud,
Pilu Gianluigi,
Simoni Giuseppe,
Vialard Francois,
Grati Francesca R.
Publication year - 2014
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.48
Subject(s) - medicine , gene duplication , phenotype , expressivity , prenatal diagnosis , genetics , pregnancy , biology , gene , fetus
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.