Structure, origin and effects of a supernumerary marker chromosome 15

A de novo supernumerary small marker chromosome 15 was observed in a female infant with mental and statomotoric retardation as well as minor facial dysmorphia. The marker chromosome was analyzed by ten different staining techniques and 5-azacytidine treatment of lymphocyte cultures. It is shown that the supernumerary chromosome was derived by a non-sister chromatid exchange between the two homologous maternal chromosomes 15. The cytogenetical properties of the marker chromosome, the different activity of its two nucleolus organizer regions and the somatic pairing configurations revealed by 5-azacyidine are reported.