Resumo

CONTRERAS CASTRO, Darinka T et al. Frequency of chromosomopathies at the institute of genetics-UMSA period 2011 - 2015. Cuad. - Hosp. Clín. [online]. 2017, vol.58, n.2, pp.14-19. ISSN 1562-6776.

Objective. To determine the frequency of patients diagnosed with chromosomal aberrations at the Genetics Institute of the Universidad Mayor de San Andrés between 2011 and 2015. Methods. Observational, descriptive cross-sectional study. Place, Institute of Genetics; La Paz, Bolivia. Period 2011-2015. Population, patients with karyotype performed at the Institute of Genetics. Results. A total of 1070 cytogenetic studies were performed, with 69% of patients being euploid. Within the aneuploid karyotypes (31 %) we found 88% constitutive chromosomal aberrations, and 12% acquired. The most frequent chromosomopathies were trisomy21, X monosomy and translocations. Conclusions. Chromosomal Aberrations occupy an important place in human genetic pathology, representing 0.4% of the newborns. Performing this research shows us the existence of these pathologies in our population, and that are not only the smallprint ofbooks orstrange cases offilm. It is very necessary to have knowledge about chromosomal aberrations in order to make a timely diagnosis and to improve the quality of life of the patient and his family.

Palavras-chave : Chromosomopathy; karyotype; Genetic Institute; Chromosomal Aberrations.

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