Análise de alterações cromossômicas utilizando a técnica bandeamento G em pacientes do sistema único de saúde com suspeita de distúrbios genéticos

Abstract

Cytogenetics is a science that focuses on microscopic studies of chromosomes and reveals important information about the genetic makeup of a living being. This study aims to evaluate the chromosomal changes that occur in peripheral blood lymphocytes in patients with suspected genetic disorders. Ten patients from the Amazonas Children's Health Institute were referred for this research. Genetic material was collected by venipuncture in a heparin tube. The culture medium was prepared on the same day of collection at the Human Cytogenetics Laboratory of the Health Sciences unit of the Amazonas State University. The GTG banding method was used for chromosome analysis, the karyotype was assembled with the aid of the Gene All program and the alterations investigated according to ISCN. 100 metaphases were counted and 10 karyotypes of each patient were assembled. In our results 6 patients had normal number and structure of chromosomes, 3 female with 46, XX karyotype and 3 male with 46, XY karyotype. Three patients presented alteration in the number of chromosomes, one female patient presented karyotype 47, XX, + 21 and 2 male patients presented karyotype 47, XY, + 21. It was not possible to assemble a karyotype of one of the patients due to the poor quality of the metaphases after checking the cell medium. The trisomy 21 chromosomal alteration was found in the karyotypes that presented alterations. Key words: Cytogenetics, G-Banding, Karyotype