Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

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 recipro...

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Bibliographic Details
Published in:Clinical case reports 2014-04, Vol.2 (2), p.25-32
Main Authors: 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.
Format: Article
Language:English
Subjects:
Array CGH
Artificial chromosomes
Autism
Case Reports
Deoxyribonucleic acid
DNA
Fetuses
Genes
Genomes
Genotype & phenotype
Laboratories
Neurodevelopmental disorders
NMR
Nuclear magnetic resonance
Patients
phenotype
prenatal
prenatal BACs on beads
Williams–Beuren critical region
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.48