RETRIEVAL OF ANEUPLOIDY BY FISH-TECHNIQUE IN A CASE WITH 46,XX 47,XXX/47,XX,+8/

We report on a 46 year old female with a new chromosomal finding [46,X X/47,XXX/47,XX,+8] who was referred for ovarian failure. The clinical presentation was highly unusual and the patient does not exhibit the c haracteristic phenotype of trisomy 8 syndrome. Interphase cytogenetics using FISH-technique revealed discrepancies with a different populati on of cells when compared with its metaphase index. Therefore, it is a dvised that patients with mosaic karyotypes should be evaluated by ana lyzing metaphase as well as interphase nuclei labeled with chromosome specific molecular tags, especially in the situations where the incide nce of a mosaic cell line is very low. Nevertheless, in a cost-conscio us environment, we must exercise caution prior to making universal rec ommendations concerning the usefulness of medical devices which are in creasing at a logarithmic rate.