PRENATAL-DIAGNOSIS OF A (X-X)-TRANSLOCATION BY FLUORESCENCE IN-SITU HYBRIDIZATION AND LASER-SCANNING IMAGE CYTOMETRY

A de novo structural abnormality of one X chromosome was prenatally de tected in a female fetus. This chromosomal abnormality has been analyz ed by conventional cytogenetic methods, fluorescence in situ hybridiza tion, and laser scanning image cytometry. The association of these tec hniques has demonstrated that this anomaly corresponds to a(X;X) trans location. Analysis of hybridization signals by laser scanning image cy tometry allowed to localize that the breakpoints were at the X-centrom eric region and Xp11.3, respectively. These results show the usefulnes s of image analysis and fluorescence in situ hybridization for a rapid characterization of de novo structural chromosome anomalies in prenat al diagnosis.