Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation.
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.
Le Caignec
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Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France. lecaignec@hotmail.com
Gicquel
C
C
Gubler
M C
MC
Guyot
C
C
You
M C
MC
Laurent
A
A
Joubert
M
M
Winer
N
N
David
A
A
Rival
J M
JM
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D002880:Chromosomes, Human, Pair 11; D019175:DNA Methylation; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000378:metabolism*; D016216:Ultrasonography, Prenatal
C094335:H19 long non-coding RNA; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated