<?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>0016-3813</journal-id>
<journal-title><![CDATA[Gaceta médica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. Méd. Méx]]></abbrev-journal-title>
<issn>0016-3813</issn>
<publisher>
<publisher-name><![CDATA[Academia Nacional de Medicina de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0016-38132022000400210</article-id>
<article-id pub-id-type="doi">10.24875/gmm.22000029</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Utilidad de la técnica de MS-MLPA en el diagnóstico de los síndromes de Beckwith-Wiedemann y Silver-Russell]]></article-title>
<article-title xml:lang="en"><![CDATA[Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Acosta-Fernández]]></surname>
<given-names><![CDATA[Elizabeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Corona-Rivera]]></surname>
<given-names><![CDATA[Jorge R.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ríos-Flores]]></surname>
<given-names><![CDATA[Izabel M.]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres-Anguiano]]></surname>
<given-names><![CDATA[Elizabeth]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Corona-Rivera]]></surname>
<given-names><![CDATA[Alfredo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Peña-Padilla]]></surname>
<given-names><![CDATA[Christian]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bobadilla-Morales]]></surname>
<given-names><![CDATA[Lucina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Hospital Civil de Guadalajara &#8220;Dr. Juan I. Menchaca&#8221; División de Pediatría ]]></institution>
<addr-line><![CDATA[Jalisco ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Civil de Guadalajara &#8220;Dr. Juan I. Menchaca&#8221; División de Auxiliares de Diagnóstico y Paramédicos ]]></institution>
<addr-line><![CDATA[Jalisco ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Guadalajara Instituto de Genética Humana &#8220;Dr. Enrique Corona-Rivera&#8221; Departamento de Biología Molecular y Genómica]]></institution>
<addr-line><![CDATA[Jalisco ]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<volume>158</volume>
<numero>4</numero>
<fpage>210</fpage>
<lpage>218</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132022000400210&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132022000400210&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132022000400210&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción: Las alteraciones epigenéticas y genómicas de la región improntada 11p15.5 producen crecimiento excesivo o deficiente, que se manifiesta como síndrome de Beckwith-Wiedemann o síndrome de Silver-Russell, respectivamente.  Objetivo: Evaluar la técnica de análisis de metilación MLPA (MS-MLPA, methylation-specific multiplex ligation-dependent probe amplification) en el diagnóstico de los síndromes de Beckwith-Wiedemann y de Silver-Russell.  Métodos: Se evaluó la metilación y las variantes de 11p15.5 en pacientes con diagnóstico clínico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell mediante la técnica MS-MLPA en ADN de sangre periférica.  Resultados: Se identificó disomía uniparental paterna y pérdida de metilación del IC2 materno en dos pacientes con síndrome de Beckwith-Wiedemann, quienes presentaron onfalocele y macroglosia, respectivamente. Se registró hipometilación paterna del IC1 en dos pacientes con síndrome de Silver-Russell de fenotipo clásico.  Conclusiones: Se observó adecuada correlación genotipo-fenotipo con los defectos de metilación encontrados, lo que confirma la utilidad del MLPA como estudio de primera línea en pacientes con diagnóstico de síndrome de Beckwith-Wiedemann y síndrome de Silver-Russell.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively.  Objective: To evaluate the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) methylation analysis technique in the diagnosis of BWS and SRS.  Methods: 11p15.5 methylation and variants were evaluated in patients with clinical diagnosis of BWS and SRS using the MS-MLPA technique in peripheral blood DNA.  Results: Paternal uniparental disomy and loss of maternal IC2 methylation were identified in two patients with BWS who had omphalocele and macroglossia, respectively. Paternal IC1hypomethylation was recorded in two patients with SRS of classic phenotype.  Conclusions: Adequate genotype-phenotype correlation was observed with the methylation defects that were identified, which confirms the usefulness of MLPA as a first-line study in patients diagnosed with BWS and SRS.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Impronta]]></kwd>
<kwd lng="es"><![CDATA[Defectos epigenéticos]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Beckwith-Wiedemann]]></kwd>
<kwd lng="es"><![CDATA[Síndrome de Silver-Russell]]></kwd>
<kwd lng="es"><![CDATA[Región 11p15.5]]></kwd>
<kwd lng="es"><![CDATA[MS-MLPA]]></kwd>
<kwd lng="en"><![CDATA[Imprinting]]></kwd>
<kwd lng="en"><![CDATA[Epigenetic defects]]></kwd>
<kwd lng="en"><![CDATA[Beckwith-Wiedemann syndrome]]></kwd>
<kwd lng="en"><![CDATA[Silver-Russell syndrome]]></kwd>
<kwd lng="en"><![CDATA[11p15.5 region]]></kwd>
<kwd lng="en"><![CDATA[MS-MLPA]]></kwd>
</kwd-group>
</article-meta>
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