Anyai toxoplasmafertózést követó mozaik 8 trisomia szindróma.

INTRODUCTION: Mosaic trisomy 8 syndrome shows significant phenotypic variability. High forehead, deep set eyes, wide base of the nose, upturned tip of the nose, protruding lips, prominent ears, strabism, corpus callosum agenesia, deep plantar furrow and variable degree of psychomotor retardation are present in most patients. PATIENTS/METHODS: The authors describe a patient with severe motor and mental retardation, optic disc hypoplasia, cardiomyopathy and partial extrahepatic bile-duct atresia, who's mother was treated for toxoplasma infection in her pregnancy. Perinatal infection of the child was ruled out by the documentation of decreasing IgG values in the mother and newborn and normal IgM levels in the newborn. RESULTS: Facial characteristics and the bilateral deep plantar furrow raised the possibility of trisomy 8 syndrome. Routine chromosomal analysis and fluorescent in situ hybridization studies revealed a normal cell line, mosaic trisomy 8 in 13% of the cells, and a pericentric marker 8 ring chromosome in 27% of the cells. CONCLUSION: The authors suggest that the periconceptional toxoplasma infection may play a role in the occurrence of the mosaic trisomy presenting with cardiomyopathy and partial bile-duct atresia previously undescribed in this syndrome.