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Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
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| Authors: | C Le Caignec C Gicquel M C Gubler C Guyot M C You A Laurent M Joubert N Winer A David J M Rival |
| Institution: | 1. Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France;2. Explorations Fonctionnelles Endocriniennes, Hôpital d'Enfants A. Trousseau, Paris, France;3. INSERM U423, Hôpital Necker-Enfants Malades, Paris, France;4. Service de Pédiatrie, Centre Hospitalo-Universitaire, Nantes, France;5. Cabinet d'Echographie, Saint-Nazaire, France;6. Cabinet de Radiologie, Saint-Nazaire, France;7. Service d'Anatomie Pathologique, Centre Hospitalo-Universitaire, Nantes, France;8. Service de Gynécologie Obstétrique, Centre Hospitalo-Universitaire, Nantes, France |
| Abstract: | Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with congenital malformations and tumour predisposition. BWS results from variable mutations or epigenetic modifications of imprinted genes in the 11p15 chromosomal region. We present a fetus with mild general overgrowth and bilateral enlarged echogenic kidneys with loss of the corticomedullary differentiation in which prenatal diagnosis of BWS was suspected. The rest of the fetal anatomy and the amniotic fluid volume appeared normal. After termination of the pregnancy, molecular analysis confirmed the diagnosis of BWS by showing an isolated hypermethylation of the H19 gene. Copyright © 2004 John Wiley & Sons, Ltd. |
| Keywords: | Beckwith–Wiedemann syndrome H19 nephromegaly echogenic kidneys prenatal diagnosis methylation |