Dataset Information

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

ABSTRACT: 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.

SUBMITTER: Marcato L

PROVIDER: S-EPMC4184624 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature

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Publications

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Marcato Livia L Turolla Licia L Pompilii Eva E Dupont Celine C Gruchy Nicolas N De Toffol Simona S Bracalente Gabriella G Bacrot Severine S Troilo Enzo E Tabet Anne C AC Rossi Sabrina S Delezoïde Anne L AL Baldo Demetrio D Leporrier Nathalie N Maggi Federico F Molin Arnaud A Pilu Gianluigi G Simoni Giuseppe G Vialard Francois F Grati Francesca R FR

Clinical case reports 20140206 2

<h4>Key clinical message</h4>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. ...[more]

PMID: 25356238

Dataset Information

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

Publications

Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.

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