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Revista de Salud Pública

Print version ISSN 0124-0064

Abstract

VELASCO, Harvy M. et al. Clinical community genetics: exploring genetic disorders in Boyacá, Colombia. Rev. salud pública [online]. 2017, vol.19, n.1, pp.32-38. ISSN 0124-0064.  http://dx.doi.org/10.15446/rsap.v19n1.55238.

Objectives

To explore the incidence of syndromic genetic pathologies in Boyacá, Colombia, through a community genetics approach.

Materials and Methods

A group made up by different medical specialists (geneticists, a pediatric neurologist, and a biochemical geneticist) developed clinical campaigns, in which patients with clinical suspicion of genetic diseases were involved. Demographic, epidemiological and clinical data were collected, and frequency calculations were made based on the collected data. Several training workshops for health personnel were done in each center visited.

Results

Two genetic clusters were found: mucopolysaccharidosis type III, and Ellis-Van Creveld Syndrome, both of them with higher incidences than those found in the literature. Also, a high frequency of autosomal recessive diseases was found, as well as microdeletion/microduplication syndromes.

Conclusions

Conventional mechanisms of medical attention must be established, in order to facilitate the access to an appropriate diagnosis and treatment. This work intended to provide support to patients, families and health care services personnel through the workshops and clinical campaigns, and to become a starting point to develop primary and secondary prevention processes.

Keywords : Rare diseases; inborn errors of metabolism; chromosome disorders; Mucopolysaccharidosis III; Sanfilippo syndrome; Ellis-Van Creveld syndrome (source: MeSH, NLM).

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