<?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>1683-9803</journal-id>
<journal-title><![CDATA[Pediatría (Asunción)]]></journal-title>
<abbrev-journal-title><![CDATA[Pediatr. (Asunción)]]></abbrev-journal-title>
<issn>1683-9803</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Paraguaya de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1683-98032021000200142</article-id>
<article-id pub-id-type="doi">10.31698/ped.48022021009</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Síndrome de Wolf-Hirschhorn por translocación: a propósito de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Wolf-Hirschhorn syndrome due to translocation: report of a case]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Alvarenga]]></surname>
<given-names><![CDATA[Eliana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres]]></surname>
<given-names><![CDATA[Elodia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Asunción Instituto de Investigaciones en Ciencias de la Salud Departamento de Genética]]></institution>
<addr-line><![CDATA[San Lorenzo ]]></addr-line>
<country>Paraguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2021</year>
</pub-date>
<volume>48</volume>
<numero>2</numero>
<fpage>142</fpage>
<lpage>146</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S1683-98032021000200142&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S1683-98032021000200142&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S1683-98032021000200142&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN El síndrome de Wolf-Hirschhorn (WHS) es una enfermedad genética causada por la pérdida de una porción distal en el brazo corto del cromosoma 4 que se caracteriza porque los pacientes presentan un rasgo craneofacial típico. Se presenta el caso de una niña de 7 meses de vida con malformaciones diversas y alimentación nasogástrica, para la realización de las técnicas de Hibridación in situ fluorescente (FISH) y cariotipo. Por FISH se detectó la microdeleción del brazo corto del cromosoma 4, región p16.3 y en el cariotipo se observó una translocación desequilibrada entre el brazo corto del cromosoma 4 y una pieza extra de origen desconocido. A fin de determinar el origen de la translocación, se realizó el estudio cromosómico a los padres, con resultados normales. Este caso revela la necesidad de la realización del FISH en pacientes con múltiples malformaciones y sospecha de ser portadores de microdeleción cromosómica.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Wolf-Hirschhorn syndrome (WHS) is a genetic disease caused by the loss of a distal portion in the short arm of chromosome 4. It is characterized by the fact that patients present a typical craniofacial feature. The case of a 7-month-old girl with various malformations and nasogastric feeding is presented, on whom fluorescent in situ hybridization (FISH) and karyotype techniques were performed. By FISH, the microdeletion of the short arm of chromosome 4, region p16.3, was detected and in the karyotype an unbalanced translocation was observed between the short arm of chromosome 4 and an extra piece of unknown origin. In order to determine the origin of the translocation, the chromosomal study was performed on the parents, with normal results. This case reveals the need to perform FISH in patients with multiple malformations and suspected carriers of chromosomal microdeletion.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Cromosoma]]></kwd>
<kwd lng="es"><![CDATA[genética humana]]></kwd>
<kwd lng="en"><![CDATA[Chromosome]]></kwd>
<kwd lng="en"><![CDATA[human genetics]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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