<?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>1659-0201</journal-id>
<journal-title><![CDATA[Población y Salud en Mesoamérica]]></journal-title>
<abbrev-journal-title><![CDATA[PSM]]></abbrev-journal-title>
<issn>1659-0201</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Costa Rica. Centro Centroamericano de Población]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1659-02012022000100507</article-id>
<article-id pub-id-type="doi">10.15517/psm.v0i19.48088</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Identificación de aberraciones cromosómicas en una población infantil costarricense con discapacidad intelectual idiopática]]></article-title>
<article-title xml:lang="en"><![CDATA[Identification of chromosomal aberrations in a Costa Rican children population with idiopathicintellectual disability]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Abarca-Ramírez]]></surname>
<given-names><![CDATA[Melissa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morales-Montero]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vindas-Smith]]></surname>
<given-names><![CDATA[Rebeca]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ortiz-Morales]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castro-Volio&#8224;]]></surname>
<given-names><![CDATA[Isabel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Universidad de Costa Rica  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Costa Rica</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>19</volume>
<numero>2</numero>
<fpage>507</fpage>
<lpage>530</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S1659-02012022000100507&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S1659-02012022000100507&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S1659-02012022000100507&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La prevalencia mundial de la discapacidad intelectual (DI) es del 3 %. Una de las causas más comunes de DI de origen genético son las aberraciones cromosómicas, las cuales resultan fácilmente detectables mediante un cariotipo. Sin embargo, muchas de estas pasan desapercibidas durante el análisis citogenético convencional debido a su tamaño. Estas pequeñas alteraciones se pueden localizar en los subtelómeros y se ha observado que, cuando es así, constituyen una razón importante de DI en pacientes que carecen de un diagnóstico de causalidad. En este estudio de tipo observacional, se utilizó la técnica MLPA con el objetivo de determinar la frecuencia de aberraciones cromosómicas submicroscópicas en los subtelómeros en una población infantil con DI de origen desconocido. Se examinaron 70 muestras de forma exitosa y se obtuvo un caso con una microduplicación en el subtelómero 17p, para una frecuencia del 1,4 %. También, se realizó el análisis citogenético en 33 muestras y se encontró un caso con una aberración cromosómica detectable al microscopio, para una frecuencia del 3 %. El porcentaje de aberraciones cromosómicas subteloméricas fue menor al esperado en comparación con estudios similares. Finalmente, se concluyó que el cariotipo y la técnica MLPA se complementan para el abordaje de personas con DI de origen desconocido.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The prevalence of intellectual disability (ID) in the global population is 3%. One of the most frequent cause of ID are chromosome aberrations, which are easily detected by a karyotype. However, many of these maygoundetected during a conventional cytogenetic analysis because of their length.These small alterations can be localized in the subtelomeres and it has been observed that when localized there, they are an important cause of ID in patients without a causality diagnostic. In this observational study, we use the MLPA technique for the purpose of identifying the frequency of submicroscopicsubtelomere chromosomal aberrations in a population of people with ID of unknown origin. 70 samples were successfully analyzed with MLPA and we found one case with a microduplication in the 17p subtelomere for a frequency of 1,4%. Also,the karyotype was performed in 33cases, and we foundone case with a chromosome aberration that can be detect by microscope for a frequency of 3%. The subtelomeric chromosome aberration frequency was lower than expected as we compare our results with similar studies. Finally, with this work we conclude that the karyotype and the MLPA technique complement each other for approaching people with ID of unknown origin.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[subtelómeros]]></kwd>
<kwd lng="es"><![CDATA[MLPA]]></kwd>
<kwd lng="es"><![CDATA[citogenética molecular]]></kwd>
<kwd lng="es"><![CDATA[cromosoma marcador]]></kwd>
<kwd lng="en"><![CDATA[Subtelomeres]]></kwd>
<kwd lng="en"><![CDATA[MLPA]]></kwd>
<kwd lng="en"><![CDATA[molecular cytogenetics]]></kwd>
<kwd lng="en"><![CDATA[marker chromosome]]></kwd>
</kwd-group>
</article-meta>
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