<?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>0121-0793</journal-id>
<journal-title><![CDATA[Iatreia]]></journal-title>
<abbrev-journal-title><![CDATA[Iatreia]]></abbrev-journal-title>
<issn>0121-0793</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Antioquia]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0121-07932018000100076</article-id>
<article-id pub-id-type="doi">10.17533/udea.iatreia.v31n1a07</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Fragile X Syndrome in a Colombian Family]]></article-title>
<article-title xml:lang="en"><![CDATA[Sindrome X frágil en una Familia Colombiana]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Saldarriaga-Gil]]></surname>
<given-names><![CDATA[Wilmar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Hagerman]]></surname>
<given-names><![CDATA[Randi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Salcedo]]></surname>
<given-names><![CDATA[María Jimena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Tassone]]></surname>
<given-names><![CDATA[Flora]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramirez-Cheyne]]></surname>
<given-names><![CDATA[Julián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[Marisol]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,University of California Davis Medical Center ]]></institution>
<addr-line><![CDATA[ California]]></addr-line>
<country>USA</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad del Valle  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,University of California Davis Medical Center ]]></institution>
<addr-line><![CDATA[ California]]></addr-line>
<country>USA</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de Valle  ]]></institution>
<addr-line><![CDATA[Cali ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,aff6  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>United States</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2018</year>
</pub-date>
<volume>31</volume>
<numero>1</numero>
<fpage>76</fpage>
<lpage>85</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0121-07932018000100076&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0121-07932018000100076&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0121-07932018000100076&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Se realizó un estudio descriptivo a una familia de Cali, Colombia, en el cual se evaluaron nueve pacientes, tres de los cuales presentaban discapacidad intelectual sin diagnóstico etiológico anterior. El caso índice fue diagnosticado con el síndrome X frágil mediante pruebas moleculares de ADN. Se realizaron pruebas en cascada a todos los miembros de la familia disponibles, identificando dos individuos adicionales con la mutación completa y cuatro portadores del alelo con pre mutación. Con este informe pretendemos contribuir a la epidemiología colombiana del síndrome y destacamos la importancia del diagnóstico etiológico de la discapacidad intelectual y proporcionar un tratamiento integral y específico a las personas afectadas. Además se busca identificar a los portadores de la pre mutación o mujeres con mutación completa sin fenotipo clásico para el asesoramiento genético y la educación sobre posibles patologías asociadas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[SUMMARY A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis. The proband was diagnosed with Fragile X syndrome by DNA molecular testing and, cascade testing, performed on all available family members, identifying two additional individuals with the full mutation and four carriers of a premutation allele. With this report we seek to contribute to Colombian epidemiology of the syndrome and emphasize the importance of diagnosis to provide a comprehensive and specific treatment to those affected. Further we seek to identify premutation carriers in their families or women with a full mutation without the classic phenotype for genetic counseling and education about potential associated pathologies.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[FMRP]]></kwd>
<kwd lng="en"><![CDATA[Fragile X Syndrome]]></kwd>
<kwd lng="en"><![CDATA[Genetic Counseling]]></kwd>
<kwd lng="en"><![CDATA[Intellectual Disability]]></kwd>
<kwd lng="es"><![CDATA[Consejería Genética]]></kwd>
<kwd lng="es"><![CDATA[Discapacidad Intelectual]]></kwd>
<kwd lng="es"><![CDATA[FMRP]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de X Frágil]]></kwd>
</kwd-group>
</article-meta>
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