Article
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
Fecha
2012-06Autor
Alvarez Vidal, Jenny Monserrath
Jerves Serrano, Teodoro
Encalada Guerrero, Verónica
Pesántez Pacheco, Laura Andrea
Institución
Resumen
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.