Abstract


This is an overview of the past, present and future of human Cytogenetics in Costa Rica. It started in 1965 at the University of Costa Rica where it has been developed slowly but steadily. There is only one overloaded clinical cytogenetic laboratory in the social security system. The tests currently performed are peripheral blood and blood marrow karyotypes, prenatal cytogenetic diagnosis (amniotic fluid and fetal blood) and less frequently skin biopsies. The task now is to standardize molecular cytogenetic techniques, we are actually working with PRINS in order to study submicroscopic subtelomeric rearrangements associated with mental retardation and other microdeletion syndromes as well
Keywords: cytogenetics, karyotypes, human genetics, Costa Rica