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Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation
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| Zeitschriftentitel: | Prenatal Diagnosis |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , |
| In: | Prenatal Diagnosis, 24, 2004, 3, S. 165-168 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Le Caignec, C. Gicquel, C. Gubler, M. C. Guyot, C. You, M. C. Laurent, A. Joubert, M. Winer, N. David, A. Rival, J. M. Le Caignec, C. Gicquel, C. Gubler, M. C. Guyot, C. You, M. C. Laurent, A. Joubert, M. Winer, N. David, A. Rival, J. M. |
|---|---|
| author |
Le Caignec, C. Gicquel, C. Gubler, M. C. Guyot, C. You, M. C. Laurent, A. Joubert, M. Winer, N. David, A. Rival, J. M. |
| spellingShingle |
Le Caignec, C. Gicquel, C. Gubler, M. C. Guyot, C. You, M. C. Laurent, A. Joubert, M. Winer, N. David, A. Rival, J. M. Prenatal Diagnosis Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation Genetics (clinical) Obstetrics and Gynecology |
| author_sort |
le caignec, c. |
| spelling |
Le Caignec, C. Gicquel, C. Gubler, M. C. Guyot, C. You, M. C. Laurent, A. Joubert, M. Winer, N. David, A. Rival, J. M. 0197-3851 1097-0223 Wiley Genetics (clinical) Obstetrics and Gynecology http://dx.doi.org/10.1002/pd.818 <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>H19</jats:italic> gene. Copyright © 2004 John Wiley & Sons, Ltd.</jats:p> Sonographic findings in Beckwith–Wiedemann syndrome related to <i>H19</i> hypermethylation Prenatal Diagnosis |
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| title |
Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_unstemmed |
Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_full |
Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_fullStr |
Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_full_unstemmed |
Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
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Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_sort |
sonographic findings in beckwith–wiedemann syndrome related to <i>h19</i> hypermethylation |
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Genetics (clinical) Obstetrics and Gynecology |
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http://dx.doi.org/10.1002/pd.818 |
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2004 |
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165-168 |
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<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>H19</jats:italic> gene. Copyright © 2004 John Wiley & Sons, Ltd.</jats:p> |
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| author | Le Caignec, C., Gicquel, C., Gubler, M. C., Guyot, C., You, M. C., Laurent, A., Joubert, M., Winer, N., David, A., Rival, J. M. |
| author_facet | Le Caignec, C., Gicquel, C., Gubler, M. C., Guyot, C., You, M. C., Laurent, A., Joubert, M., Winer, N., David, A., Rival, J. M., Le Caignec, C., Gicquel, C., Gubler, M. C., Guyot, C., You, M. C., Laurent, A., Joubert, M., Winer, N., David, A., Rival, J. M. |
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| description | <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>H19</jats:italic> gene. Copyright © 2004 John Wiley & Sons, Ltd.</jats:p> |
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| institution | DE-Brt1, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3 |
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| spelling | Le Caignec, C. Gicquel, C. Gubler, M. C. Guyot, C. You, M. C. Laurent, A. Joubert, M. Winer, N. David, A. Rival, J. M. 0197-3851 1097-0223 Wiley Genetics (clinical) Obstetrics and Gynecology http://dx.doi.org/10.1002/pd.818 <jats:title>Abstract</jats:title><jats:p>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 <jats:italic>H19</jats:italic> gene. Copyright © 2004 John Wiley & Sons, Ltd.</jats:p> Sonographic findings in Beckwith–Wiedemann syndrome related to <i>H19</i> hypermethylation Prenatal Diagnosis |
| spellingShingle | Le Caignec, C., Gicquel, C., Gubler, M. C., Guyot, C., You, M. C., Laurent, A., Joubert, M., Winer, N., David, A., Rival, J. M., Prenatal Diagnosis, Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation, Genetics (clinical), Obstetrics and Gynecology |
| title | Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_full | Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_fullStr | Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_full_unstemmed | Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_short | Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| title_sort | sonographic findings in beckwith–wiedemann syndrome related to <i>h19</i> hypermethylation |
| title_unstemmed | Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation |
| topic | Genetics (clinical), Obstetrics and Gynecology |
| url | http://dx.doi.org/10.1002/pd.818 |