<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0124-0064</journal-id>
<journal-title><![CDATA[Revista de Salud Pública]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. salud pública]]></abbrev-journal-title>
<issn>0124-0064</issn>
<publisher>
<publisher-name><![CDATA[Instituto de Salud Publica, Facultad de Medicina - Universidad Nacional de Colombia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0124-00642017000100032</article-id>
<article-id pub-id-type="doi">10.15446/rsap.v19n1.55238</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Genética clínica comunitaria: exploración de patología genética en Boyacá, Colombia]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Velasco]]></surname>
<given-names><![CDATA[Harvy M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martin]]></surname>
<given-names><![CDATA[Ángela M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Galvis]]></surname>
<given-names><![CDATA[Johanna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Buelvas]]></surname>
<given-names><![CDATA[Lina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez]]></surname>
<given-names><![CDATA[Yasmín]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Umaña]]></surname>
<given-names><![CDATA[Luis A.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta]]></surname>
<given-names><![CDATA[Johanna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Morfología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Morfología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Morfología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Morfología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad Pedagógica y Tecnológica de Colombia Facultad de Medicina ]]></institution>
<addr-line><![CDATA[Tunja Boyacá]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,University of Texas Department of Pediatrics, Division of Genetics and Metabolism ]]></institution>
<addr-line><![CDATA[Dallas TX]]></addr-line>
<country>USA</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Universidad Nacional de Colombia Departamento de Morfología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2017</year>
</pub-date>
<volume>19</volume>
<numero>1</numero>
<fpage>32</fpage>
<lpage>38</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0124-00642017000100032&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0124-00642017000100032&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0124-00642017000100032&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Objetivo Explorar la presencia de patología genética sindrómica en el Departamento de Boyacá, mediante un acercamiento de medicina genética comunitaria.  Materiales y Métodos Un grupo conformado por genetistas, neurólogo pediátrico y genetista bioquímico, llevó a cabo jornadas clínicas en las cuales se evaluaron pacientes con sospecha de enfermedad genética. Se obtuvieron datos demográficos, epidemiológicos y clínicos y se realizó el cálculo de frecuencias de los mismos. En los centros de referencia visitados se realizaron actividades de capacitación al personal médico.  Resultados Se encontraron dos agrupamientos genéticos: MPSIII y Síndrome de Ellis Van Creveld, con incidencias mayores a lo reportado en la literatura, además una alta frecuencia de patologías de herencia autosómica recesiva, así como sospecha de síndromes de microdeleción-microduplicación.  Conclusiones Se deben establecer mecanismos no convencionales de atención médica para facilitar el acceso a las comunidades a un diagnóstico y tratamiento adecuados en genética. Se espera que el apoyo brindado a los pacientes, familias y personal asistencial de los hospitales a través de las jornadas clínicas y la capacitación, permitan alcanzar este objetivo y a la vez sea un punto de inicio de procesos de prevención primaria y secundaria.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  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.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Enfermedades raras]]></kwd>
<kwd lng="es"><![CDATA[errores innatos del metabolismo]]></kwd>
<kwd lng="es"><![CDATA[aberraciones cromosómicas]]></kwd>
<kwd lng="es"><![CDATA[Mucopolisacaridosis III]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Sanfilippo]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Ellis-Van Creveld (fuente: DeCS, BIREME)]]></kwd>
<kwd lng="en"><![CDATA[Rare diseases]]></kwd>
<kwd lng="en"><![CDATA[inborn errors of metabolism]]></kwd>
<kwd lng="en"><![CDATA[chromosome disorders]]></kwd>
<kwd lng="en"><![CDATA[Mucopolysaccharidosis III]]></kwd>
<kwd lng="en"><![CDATA[Sanfilippo syndrome]]></kwd>
<kwd lng="en"><![CDATA[Ellis-Van Creveld syndrome (source: MeSH, NLM)]]></kwd>
</kwd-group>
</article-meta>
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