Cariotipos humanos en sangre periférica, diez años de experiencia en el departamento de citogenética del Centro de Diagnóstico y Estudios Biomédicos de la Facultad de Ciencias Médicas de la Universidad de Cuenca

Abstract

Introduction. The analysis of the karyotypes in peripheral blood T lymphocytes obtained from is an accessible cytogenetic technique, besides it was the only one available in the Southern of Ecuador. Studies in Ecuador on chromosomal abnormalities do not have data in our region. This study describes the experience of Cytogenetics Service in conducting human karyotypes. Objective. Describe the identified chromosomal abnormalities in the karyotypes of the patients referred to the Cytogenetics Service Diagnostic Center and Biomedical Research, University of Cuenca. Materials and methods. This is a descriptive study of the Cytogenetics Service records for a period of 10 years (2001-2010); the total number of tests performed was 513. Samples were grown by conventional methodology and used the G banding technique. Results. The 27.8% of the karyotypes showed chromosomal abnormalities. The 84.17% was numeric type, 3.6% were structural and 12.23% were mosaics. The most frequent abnormality was Down syndrome with 80.58%, followed by Turner syndrome with 15.83%. 4.8% of the karyotypes were applied without appropriate clinical criteria. The prevalence of patients with ambiguous genitalia was 7.6%. Conclusions. The results obtained in the study were similar to others carried out in Ecuador and Latin America. Chromosomal abnormalities were the most frequent numeric type, and among them, Down Syndrome followed by Turner Syndrome.