Prenatal diagnosis in monozygotic twins with Down syndrome who had different phenotypes.

We report the case of monozygotic (MZ) male twin fetuses with different Down syndrome (DS) phenotypes. Prenatal fetal sonography showed a bichorial biamniotic 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.

[Multiple recurrent papillomas of the breast: case report]. / Papillomes multiples récidivants du sein: à propos d'un cas.

We report the case of a patient presenting multiple recurrent papillomas of the breast. This mild mammary pathology, developed at the expense of the galactophoric ducts, recurred four times, in a nodular way, in spite of in sano surgical resection. The retrospective study of the cell proliferation and the DNA quantification of the cells constitutive of the papillomas, on several samples, underlined evolutive lesions, which could be predictive of a malignant degeneration. This observation allows us to discuss the management of this rare mild mammary pathology, which can sometimes lead to invasive breast carcinoma.