Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation

被引：5
作者：
Le Caignec, C
Gicquel, C
Gubler, MC
Guyot, C
You, MC
Laurent, A
Joubert, M
Winer, N
David, A
Rival, JM
机构：
[1] CHU Nantes, Serv Genet Med, F-44093 Nantes, France
[2] Hop Enfants A Trousseau, Paris, France
[3] Hop Necker Enfants Malad, INSERM U423, Paris, France
[4] CHU Nantes, Serv Pediat, F-44093 Nantes, France
[5] Cabinet Echog, St Nazaire, France
[6] Cabinet Radiol, St Nazaire, France
[7] CHU Nantes, Serv Gynecol Obstet, F-44093 Nantes, France
[8] CHU Nantes, Serv Anat Pathol, F-44093 Nantes, France
来源：
PRENATAL DIAGNOSIS | 2004年 / 24卷 / 03期
关键词：
Beckwith-Wiedemann syndrome; H19; nephromegaly; echogenic kidneys; prenatal diagnosis; methylation;
D O I：
10.1002/pd.818
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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 (C) 2004 John Wiley Sons, Ltd.
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收藏
页码：165 / 168
页数：4
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