<?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>0035-0052</journal-id>
<journal-title><![CDATA[Revista mexicana de pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. pediatr.]]></abbrev-journal-title>
<issn>0035-0052</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Pediatría A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0035-00522024000500181</article-id>
<article-id pub-id-type="doi">10.35366/120168</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hallazgos clínicos inusuales en un paciente con síndrome de Patau]]></article-title>
<article-title xml:lang="en"><![CDATA[Unusual clinical findings in a patient with Patau syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guapi-Nauñay]]></surname>
<given-names><![CDATA[Víctor Hugo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mejía-Jiménez]]></surname>
<given-names><![CDATA[Jonathan Alejandro]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Porras-Borja]]></surname>
<given-names><![CDATA[Fabián David]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Ministerio de Salud Pública Centro Especializado de Genética Médica Unidad de Genética]]></institution>
<addr-line><![CDATA[Ciudad de Quito ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Provincial General de Tulcán &#8220;Luis G Dávila&#8221; Unidad de Imagenología ]]></institution>
<addr-line><![CDATA[Ciudad de Tulcán ]]></addr-line>
<country>Ecuador</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Ministerio de Salud Pública Centro Especializado de Genética Médica Laboratorio de Citogenética]]></institution>
<addr-line><![CDATA[Ciudad de Quito ]]></addr-line>
<country>Ecuador</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2024</year>
</pub-date>
<volume>91</volume>
<numero>5</numero>
<fpage>181</fpage>
<lpage>187</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0035-00522024000500181&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0035-00522024000500181&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0035-00522024000500181&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen:  Introducción:  la trisomía del cromosoma 13 (síndrome Patau) se caracteriza por presentar micro/anoftalmía, polidactilia, así como labio y paladar hendido.  Objetivo:  describir los hallazgos clínicos en un paciente en Ecuador con trisomía 13 completa.  Caso clínico:  paciente de sexo masculino con tres años, valorado por servicio de Genética. Presenta desnutrición, microftalmía, microcefalia, una zona de alopecia parietooccipital, muesca en cada ala nasal, dextrocardia, polidactilia postaxial y prominencia posterior del talón. Además, retraso grave en el neurodesarrollo. El estudio citogenético con técnica de bandas GTG confirmaron el diagnóstico de 47, XY +13, mientras que la técnica hibridación in situ con fluorescencia en linfocitos sanguíneos evidenció la presencia de tres señales para el cromosoma 13.  Conclusión:  los pacientes con trisomía del cromosoma 13 presentan múltiples malformaciones. Esperamos que este caso ayude a la detección oportuna de otros pacientes con manifestaciones clínicas similares.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract:  Introduction:  chromosome 13 trisomy (Patau syndrome) is characterized by micro/anophthalmia, polydactyly, as well as cleft lip and palate.  Objective:  to describe the clinical findings in a patient in Ecuador with complete trisomy 13.  Clinical case:  a three-year-old male patient was evaluated by the Genetics Department. He presented malnutrition, microphthalmia, microcephaly, a parietooccipital alopecia, a notch in each nasal wing, dextrocardia, postaxial polydactyly, and posterior heel prominence. He also had severe delay in neurodevelopment. The cytogenetic study with the GTG banding technique confirmed the diagnosis of 47, XY +13, while the fluorescence in situ hybridization technique in blood lymphocytes showed the presence of three signals for chromosome 13.  Conclusion:  patients with chromosome 13 trisomy have multiple malformations. We hope that this case helps the timely detection of other patients with similar clinical manifestations.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[trisomía 13]]></kwd>
<kwd lng="es"><![CDATA[síndrome de Patau]]></kwd>
<kwd lng="es"><![CDATA[microftalmía]]></kwd>
<kwd lng="es"><![CDATA[labio hendido]]></kwd>
<kwd lng="es"><![CDATA[polidactilia]]></kwd>
<kwd lng="en"><![CDATA[trisomy 13]]></kwd>
<kwd lng="en"><![CDATA[Patau syndrome]]></kwd>
<kwd lng="en"><![CDATA[microphthalmia]]></kwd>
<kwd lng="en"><![CDATA[cleft lip]]></kwd>
<kwd lng="en"><![CDATA[polydactyly]]></kwd>
</kwd-group>
</article-meta>
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