2026-06-15T15:38:24Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/136362025-03-10T14:32:48Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5714

00925njm 22002777a 4500 dc Rodriguez, Laura author López Grondona, Fermín author Mansilla, E author Martínez-Frías, María Luisa author 2002-10 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. Boletín del ECEMC: Rev Dismor Epidemiol 2002; V (nº 1): 9-13 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/13636 Dismorfología Anomalías congénitas Epidemiología Resultados del laboratorio de citogenética del ECEMC del año 2001. Nuevas técnicas de FISH y su implicación clínica