Prenatal and postnatal molecular-cytogenetic investigations of 75 patients have been performed. 3-stage international standard of patients' examination was used, including general clinical examination, investigation by the methods of conventional cytogenetics and molecular-cytogenetic fluorescence in-situ hybridization (FISH) analysis. On the basis of cytogenetic investigation we can conclude that in 25% of cases of complex chromosomal anomalies the cytogenetic diagnosis, obtained by means of conventional karyotyping, needed further specification. Only in 50% of these cases FISH-investigations confirm the results, received on the basis of conventional cytogenetics. In other cases diagnosis was specified or changed. The investigations were carried out with consultations of Institute of Medical Genetics (University of Zurich). Some cases of chromosomal pathology, representing scientific interest, were included in the European Cytogeneticists Association Register of Unbalanced Chromosomal Aberrations (ECARUCA).
|State||Published - Sep 2006|