Journal
PRENATAL DIAGNOSIS
Volume 27, Issue 6, Pages 552-554Publisher
JOHN WILEY & SONS LTD
DOI: 10.1002/pd.1711
Keywords
monozygotic twin pregnancy; phenotype discordance; Down syndrome; epigenetics; environmental factors
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We report the case of monozygotic (MZ) male twin fetuses with different Down syndrome (DS) phenotypes. Prenatal fetal sonography showed a bichorial biammotic pregnancy with increased nuchal translucency in twin A and a cervical cystic hygroma and heart defect in twin B. Cytogenetic analysis performed after double amniocentesis showed free and homogeneous trisomy 21 in both twins. Monozygosity was confirmed by molecular analysis. The pregnancy was terminated at 17 weeks of gestation (WG). Postmortem analysis confirmed the phenotypic discordance. To our knowledge, this is the first reported prenatal diagnosis of MZ male twins with different Down syndrome phenotypes but identical karyotypes. We discuss the mechanisms involved in phenotypic discordance of monozygotic twins and particularly the role of environmental factors. Copyright (c) 2007 John Wiley & Sons, Ltd.
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