Marker Chromosome in a Turner Patient.

ABSTRACT

Out of the twenty seven suspected cases of Turner Syndrome analysed during 1993-1995, eleven had the chromosome pattern of 45,X; fifteen had 45,X / 46,XX and one had mosaic pattern of 45,X / 46,X, +mar. The paper discusses a patient with the mosaic chromosome pattern of 45,X / 46,X, +mar showing most of the Turner stigmata. The marker chromosome was seen in the 76% of the metaphases analysed. It was too small and G, C, Q banding could not confirm the origin. The position of the marker chromosome was random and no significant centromeric association was seen. It is well documented that the patients with the dysgenetic gonads and the presence of Y material has increased risk of malignancy. The origin of the marker chromosome is discussed in relation to phenotypic features.