Genética clínica comunitaria: Exploración de patología genética en Boyacá, Colombia

Translated title of the contribution: Clinical community genetics: Exploring genetic disorders in Boyacá, Colombia

Harvy M. Velasco, Ángela M. Martin, Johanna Galvis, Lina Buelvas, Yasmín Sánchez, Luis A. Umaña, Johanna Acosta

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Translated title of the contributionClinical community genetics: Exploring genetic disorders in Boyacá, Colombia
Original languageSpanish
Pages (from-to)61-70
Number of pages10
JournalRevista de Salud Publica
Issue number1
StatePublished - Jan 1 2017


  • Chromosome disorders
  • Ellis-Van Creveld syndrome
  • Inborn errors of metabolism
  • Mucopolysaccharidosis III
  • Rare diseases
  • Sanfilippo syndrome

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health


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