Resumo

VERGARA ESTUPINAN, E. J; FORERO-CASTRO, R. M  e  MORENO GRANADOS, J. I. Descriptive-Transversal Study of the Down Syndrome in Patients from Boyacá (Colombia). Ciencia en Desarrollo [online]. 2014, vol.5, n.2, pp.187-195. ISSN 0121-7488.

Down Syndrome (DS) is the most common autosomal aneuploidy and the main cause of mental retardation from genetic origin, it occurs in 1 in every 650 1,000 live births, and the syndrome generates a significant decline in the affected's life expectancy and quality. The aim of the study was to perform a descriptive analysis about the population behavior in front of some variables related to the DS occurrence in the Boyacá department, which have conventionally been studied in other locations of the country and the world. One hundred forty family units were surveyed with at least one case of DS in forty-three locations in the Boyacá department. Qualitative and quantitative variables such as maternal and paternal age, family history and genetic studies in patients were studied. It was noted that in the department, a karyotype test is not routinely used as diagnostic support for the study of chromosomal abnormalities such as DS, due to their high cost and limited access. The largest number of DS cases occurred in mothers aged 30-35 years (27.8 % of all cases). In families with recurrent DS cases was ruled out by karyotype test that an inherited chromosomal abnormality could be responsible for this condition, however, it was unknown whether spontaneous abortion were influenced by genetic factor in the affected families. Genetic counseling is recommended to inform about the origin and risk of recurrent DS cases in the family. Similarly, it is important to encourage cytogenetic studies supporting the diagnosis of patients who may be affected by chromosomal abnormalities, taking into account that since 2011 the cytogenetic tests were included in the list of diagnostic tests available for the Colombian population in the Mandatory Health Plans.

Palavras-chave : Cytogenetics; Down Syndrome; Maternal Age.

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