Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics

Abstract

The quinacrine mustard fluorescence pattern of chromosomes was studied in seven patients with an XO/XY mosaicism. A non-fluorescent Y chromosome was found in four of the patients. The fathers could be studied in three of these, and compared to the patients all three had longer Y chromosomes with a normal fluorescence pattern. One of these patients had an unbalanced 2p/Yq translocation as revealed by meiotic studies. These results prompt a re-evaluation of the nature and origin of the mosaic condition and of the genotype-phenotype correlation in patients with XO/XY mosaicism.