<?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>1665-1146</journal-id>
<journal-title><![CDATA[Boletín médico del Hospital Infantil de México]]></journal-title>
<abbrev-journal-title><![CDATA[Bol. Med. Hosp. Infant. Mex.]]></abbrev-journal-title>
<issn>1665-1146</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Salud, Hospital Infantil de México Federico Gómez]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1665-11462019000500246</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.19000003</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mosaicismo de trisomía 13]]></article-title>
<article-title xml:lang="en"><![CDATA[Trisomy 13 mosaicism]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cammarata-Scalisi]]></surname>
<given-names><![CDATA[Francisco]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Araque]]></surname>
<given-names><![CDATA[Dianora]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez]]></surname>
<given-names><![CDATA[Rosmary]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guaran]]></surname>
<given-names><![CDATA[Luis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[Gloria Da]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Los Andes Unidad de Genética Médica Departamento de Puericultura y Pediatría]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro de Recuperación Nutricional Infantil Dr. Pastor Oropeza  ]]></institution>
<addr-line><![CDATA[San Cristóbal Táchira]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Hospital Central de San Cristóbal  ]]></institution>
<addr-line><![CDATA[San Cristóbal Táchira]]></addr-line>
<country>Venezuela</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2019</year>
</pub-date>
<volume>76</volume>
<numero>5</numero>
<fpage>246</fpage>
<lpage>250</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462019000500246&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462019000500246&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462019000500246&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: La trisomía 13 es una alteración cromosómica con una incidencia de 1 en 10,000 a 20,000 nacimientos. Puede ocurrir de forma completa, parcial o en mosaicismo. Este último caso ocurre cuando, en un individuo, un porcentaje de células son trisómicas para el cromosoma 13 mientras que el resto son euploides, y corresponde solamente al 5% de todos los casos. Los pacientes que padecen trisomía 13 presentan una expresividad variable, que va desde malformaciones graves con muerte temprana (fenotipo similar a la forma completa y más frecuente) hasta un desarrollo normal y pocos hallazgos dismórficos.  Casos clínicos:  Se presentan los hallazgos clínicos y citogenéticos de dos casos nuevos de mosaicismo de trisomía 13.  Conclusiones:  Se resalta la importancia del diagnóstico prenatal, los hallazgos clínicos y la evaluación médica interdisciplinaria, así como un asesoramiento genético oportuno.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background: Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in an individual and corresponds to only 5% of all cases. Patients with trisomy 13 present a wide variable expressivity, ranging from severe malformations with early death (phenotype similar to the complete form and more frequent), to normal development and few dysmorphic findings.  Case reports:  The clinical and cytogenetic findings of two new cases of trisomy 13 mosaicism are described.  Conclusions:  The importance of prenatal diagnosis, clinical findings, and interdisciplinary medical evaluation is highlighted, as well as an appropriate genetic counseling.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Trisomía 13]]></kwd>
<kwd lng="es"><![CDATA[Mosaicismo]]></kwd>
<kwd lng="es"><![CDATA[Diagnóstico prenatal]]></kwd>
<kwd lng="es"><![CDATA[Clínica]]></kwd>
<kwd lng="es"><![CDATA[Asesoramiento genético]]></kwd>
<kwd lng="en"><![CDATA[Trisomy 13]]></kwd>
<kwd lng="en"><![CDATA[Mosaicism]]></kwd>
<kwd lng="en"><![CDATA[Prenatal diagnosis]]></kwd>
<kwd lng="en"><![CDATA[Clinical]]></kwd>
<kwd lng="en"><![CDATA[Genetic counseling]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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