Molecular cytogenetic study of short arm aberrations in human D, G group chromosomes

Abstract

Six cases of Dp+/Gp+, 10 cases of D/G translocation, 1 case of supernumerary marker chromosome, and 1 case of Yqs were studied using molecular and cytogenetic techniques. The Ag-NOR frequencies of the Dp+ and Gp+ groups were found to be higher than those of normal controls, while their satellite association frequencies were lower. Autoradiographic silver grains were not significantly distributed along the p+ part of the marker chromosome as revealed by chromosomal in situ hybridization using an rRNA probe. This result differs from our previous report. It is suggested that there might be different mechanisms for the formation of p+ on acrocentric chromosomes. D/G translocation cases were found to have lost their NOR. A study of supernumerary marker chromosomes and Yqs cases suggested that the marker chromosome and Yqs exerted no phenotypic effect. The mechanism of their formation is discussed.