Resultados del laboratorio de citogenética del ECEMC del año 2001. Nuevas técnicas de FISH y su implicación clínica

Abstract

We present here the results of the karyotypes found during the year 2001 in the ECEMC cytogenetic laboratory. All of the structural chromosome alterations found during this period were diagnosed using High Resolution G–band chromosomes (550–850 bands) and FISH techniques, including chromoprobe–Multiprobe–kits. The advances in cytogenetic and molecular cytogenetic techniques, have helped to detect quite small chromosome alterations. Nowadays, there are some groups working specifically in the telomeres, since these structures are regions full of genes and are implicated in most of the chromosome alterations. Nevertheless, the frequency and impact of these telomeric alterations in patients with mental retardation, malformations and/or other clinical manifestations, are still not clear.