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. Copyright © 2007 John Wiley & Sons, Ltd.     

Microsatellite length polymorphisms associated with dispersal-related agonistic onset in male wild house mice (Mus musculus domesticus)

Dispersal propensity, reflecting one of the most decisive mammalian life history traits, has been suggested to vary heritably and to locally adapt to prevailing dispersal conditions in wild house mouse populations. Because individual dispersal propensity highly significantly covaries with the developmental timing of the onset of agonistic interactions between littermate brothers, we used agonistic onset as an endophenotype to explore the potential genetic basis of dispersal-related behavioral variation in male house mice. We found significant covariation of microsatellite marker compositions with the probability of fraternal pairs to exhibit agonistic relationships before the age of 2 months. In particular, the presence of two alleles associated with a serotonin transporter protein gene (Slc6a4) and a testosterone dehydrogenase gene (Cyp3a11), respectively, strongly covaried with the probability of early agonistic onset. These results are congruent with recent findings of microsatellite length polymorphisms marking regulatory variation of gene expression that is relevant for social behavior, including dispersal propensity development, in other mammals. Genetic variability for ontogenetic timing of agonistic onset would be in agreement with genotypic differentiation of the dispersive behavioral syndrome in natural populations that could lead to local adaptation.