Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay

Abstract

We report on a girl with mosaicism (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the ring chromosome was duplicated in 20% of the analyzed metaphases with marker chromosome and quadruplicated in 5% thereof. Uniparental disomy (UPD) of the two normal sister chromosomes 7 was excluded. This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results.