<?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>1727-897X</journal-id>
<journal-title><![CDATA[MediSur]]></journal-title>
<abbrev-journal-title><![CDATA[Medisur]]></abbrev-journal-title>
<issn>1727-897X</issn>
<publisher>
<publisher-name><![CDATA[Universidad de Ciencias Médicas de Cienfuegos, Centro Provincial de Ciencias Médicas, Provincia de Cienfuegos.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1727-897X2020000200272</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Diagnóstico prenatal de atresia duodenal en feto con Síndrome Down. A propósito de un caso]]></article-title>
<article-title xml:lang="en"><![CDATA[Prenatal diagnosis of duodenal atresia in fetus with Down syndrome. About a case]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz-Véliz Jiménez]]></surname>
<given-names><![CDATA[Pedro Alí]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vidal Hernández]]></surname>
<given-names><![CDATA[Belkis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González Santana]]></surname>
<given-names><![CDATA[Iliana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Portero Cabrera]]></surname>
<given-names><![CDATA[Doris]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sosa Águila]]></surname>
<given-names><![CDATA[Leydi María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Provincial de Genética Médica  ]]></institution>
<addr-line><![CDATA[Cienfuegos Cienfuegos]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2020</year>
</pub-date>
<volume>18</volume>
<numero>2</numero>
<fpage>272</fpage>
<lpage>278</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1727-897X2020000200272&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1727-897X2020000200272&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1727-897X2020000200272&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN La atresia duodenal (AD) es una patología congénita infrecuente. Es el resultado de una falla en la recanalización del duodeno y se puede encontrar asociada a cromosomopatías como el Síndrome Down en el 30% de los casos. El síndrome de down se produce por una trisomía del par cromosómico 21 y es la aberración cromosómica más frecuente. Debido a la necesidad de contar con reportes de esta alteración presentamos el diagnóstico prenatal por ultrasonido y estudio citogenético de una paciente de 25 años de edad a la que a las 28 semanas de gestación se le detectó en abdomen fetal una imagen ecolúcida dual por debajo del estómago (Imagen en doble Burbuja) compatible con atresia duodenal. Por sospecha de asociación de este tipo de malformación con enfermedad cromosómica, se le realizó diagnóstico prenatal citogenético, cuyo resultado fue: 47,XX, +21, inv(9)(p11;q12), feto femenino positivo para una trisomía 21 e inversión pericéntrica del cromosoma 9. Luego del asesoramiento genético, la pareja optó por la interrupción excepcional de la gestación. Se confirmó por anatomía patológica la presencia de la atresia duodenal y rasgos dismórficos compatibles con el síndrome down.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Duodenal atresia (AD) is a rare congenital pathology. It is the result of a failure in the recanalization of the duodenum and can be found associated with chromosomopathies such as Down syndrome in 30% of cases. Down syndrome is caused by a trisomy of the 21 chromosome pair and is the most frequent chromosomal aberration. Due to the need to have reports of this alteration, we present the prenatal diagnosis by ultrasound and a cytogenetic study of a 25-year-old patient who, at 28 weeks pregnancy, had a dual echolucent image below the fetal abdomen under the stomach (double bubble image) compatible with duodenal atresia. On the bases of the suspicion of the association type of malformation with chromosomal disease, a prenatal cytogenetic diagnosis was performed, resulting: 47, XX, +21, inv (9) (p11; q12), female fetus positive for trisomy 21 and pericentric inversion of chromosome 9. After genetic counseling, the couple opted for the exceptional pregnancy interruption. The presence of duodenal atresia and dysmorphic features compatible with down syndrome were confirmed by pathological anatomy.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[atresia intestinal]]></kwd>
<kwd lng="es"><![CDATA[ultrasonografía prenatal]]></kwd>
<kwd lng="es"><![CDATA[síndrome de down]]></kwd>
<kwd lng="en"><![CDATA[intestinal atresia]]></kwd>
<kwd lng="en"><![CDATA[ultrasonography]]></kwd>
<kwd lng="en"><![CDATA[prenatal]]></kwd>
<kwd lng="en"><![CDATA[down sindrome]]></kwd>
</kwd-group>
</article-meta>
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