Abstract

TORRES, Elodia. Advantages and limitations of cytogenetics in current medicine. Mem. Inst. Investig. Cienc. Salud [online]. 2018, vol.16, n.2, pp.107-112. ISSN 1812-9528.  https://doi.org/10.18004/mem.iics/1812-9528/2018.016(02)107-112.

Cytogenetics is the study of chromosomes both in number and structure. The first publications about human cytogenetics were provided towards the end of the 19th century with the publication of Flemming in 1882 of the first figures of human chromosomes from observations under the microscope and only in 1953, Tjio and Levan determined the actual number of human chromosomes per diploid cell (2n = 46). The purpose of this paper is to present the value, current use and importance of cytogenetic studies in those cases in which the health professional faces a patient with a probable disease of genetic causes or dysmorphic syndrome, in addition to exposing some experiences from a Cytogenetics laboratory in Paraguay, where chromosomal study is carried out. Even with the arrival of Molecular Biology and Molecular Cytogenetics, conventional cytogenetics is a tool with a great importance, which allows the genetic disease diagnosis in patients with clinical suspicion of being carriers of chromosomal abnormalities, allowing to advice families about the disease, as well as to provide a prognosis, risk of recurrence and, in cases that requires it, a treatment.

Keywords : human chromosomes; cytogenetics; genetic study; diagnosis.

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