Pasado, presente y futuro de la citogenética en Costa Rica
Fecha
2004
Tipo
artículo original
Autores
Castro Volio, Isabel
Título de la revista
ISSN de la revista
Título del volumen
Editor
Revista de Biología Tropical 52 (3) 537-544
Resumen
Esta es una breve descripcion de lo que ha sido el
desarrollo de la citogenética humana en Costa Rica, la
situacion actual y las expectativas a corto plazo. Esta ciencia-
arte nacio hace poco más de cuarenta años en la
Facultad de Medicina de la Universidad de Costa Rica.
Actualmente se desarrolla como un servicio diagnostico asistencial
en el Hospital Nacional de Niños "Dr. Carlos
Sáenz Herrera" y con un componente adicional de investigaci6n
en el Instituto de Investigaciones en Salud de la
misma universidad. Los ensayos que se ofrecen a la
poblacion son los cariotipos en sangre periférica y en
médula osea, el diagnostico prenatal citogenético en muestras de liquido amniótico y de sangre fetal y con
menos frecuencia en biopsias de piel.
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.
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.
Descripción
artículo -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2004
Palabras clave
Costa Rica, Genética humana, citogenética