Hallazgos citogenéticos en los pacientes de la Unidad de Genética Médica de la Universidad de Los Andes en Mérida, Venezuela

Abstract

The following study aims to identify the cytogenetic findings in the patients of the Unit of Medical Genetics of the University of Los Andes in Merida, Venezuela to determine the prevalence and type of chromosomal abnormalities. An observational, descriptive and cross-sectional study was performed in the patients evaluated from january 2005 to january 2012. The cytogenetic study was realized by conventional technique G-banding. A total of 716 of cytogenetic studies performed, 113 (15,78%) had some type of alteration of autosomal chromosomes and trisomy 21 was the most frequent with 95 (84,07%); 71 (9,92%) of the sex chromosomes and the X monosomy was most common with 67 (94,37%). Trisomy 21 is the main type of chromosomal abnormality in this study and revised, with free trisomy the most common form. The X monosomy is the second and the first abnormality of the sex chromosomes, with emphasis the high frequency of mosaicism with a cell line with monosomy for the X and one normal cell line. It is pertinent to spread the importance of cytogenetic analysis in medical practice, as a useful resource in the study of patients with chromosomal alterations.