<?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>S1665-11462019000200100</article-id>
<article-id pub-id-type="doi">10.24875/bmhim.18000108</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Cromosoma 13 en anillo]]></article-title>
<article-title xml:lang="en"><![CDATA[Ring chromosome 13]]></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[Briceño]]></surname>
<given-names><![CDATA[Yajaira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cegarra]]></surname>
<given-names><![CDATA[Edymar]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Montilla]]></surname>
<given-names><![CDATA[Daniela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Los Andes Facultad de Medicina Departamento de Puericultura y Pediatría]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Autónomo Hospital Universitario de Los Andes Unidad de Endocrinología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de Los Andes Posgrado de Puericultura y Pediatría ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Venezuela</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Los Andes Facultad de Farmacia y Bioanálisis ]]></institution>
<addr-line><![CDATA[Mérida ]]></addr-line>
<country>Venezuela</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>04</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>04</month>
<year>2019</year>
</pub-date>
<volume>76</volume>
<numero>2</numero>
<fpage>100</fpage>
<lpage>103</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S1665-11462019000200100&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S1665-11462019000200100&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S1665-11462019000200100&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  El cromosoma 13 en anillo es una alteración citogenética infrecuente, clínicamente caracterizada por presentar retraso del crecimiento, del desarrollo psicomotor y déficit cognitivo, además de microcefalia, dismorfia facial, alteraciones genitales e hipoplasia del pulgar.  Caso clínico:  Paciente de 8 meses de edad evaluado por presentar talla baja, retraso del desarrollo psicomotor, microcefalia, dismorfia facial, hipospadias peneoescrotales e hipoplasia de pulgar. Se evidenció lisencefalia, hipoacusia neuroconductiva del lado derecho y comunicación interauricular tipo ostium secundum pequeña. El estudio citogenético del paciente mostró 46, XY, r (13) en 30 células analizadas.  Conclusiones:  Se resaltan los hallazgos clínicos que pueden orientar el diagnóstico de esta alteración cromosómica estructural infrecuente, destacando, además, la evaluación médica interdisciplinaria requerida y el adecuado asesoramiento genético familiar.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Background:  Ring chromosome 13 is an infrequent cytogenetic disorder clinically characterized by growth and psychomotor development retardation, cognitive deficit, microcephaly, facial dysmorphism, genital alterations and thumb hypoplasia.  Case report:  A 8-month-old patient was evaluated for presenting short stature, psychomotor development delay, microcephaly, facial dysmorphism, penoscrotal hypospadias and thumb hypoplasia. Lissencephaly, neuroconductive hearing loss on the right side and small ostium secundum interatrial communication were evident. The cytogenetic study of the patient showed 46, XY, r (13) in 30 cells analyzed.  Conclusions:  Clinical findings that can guide the diagnosis of this infrequent structural chromosomal alteration are highlighted, as well as the interdisciplinary medical evaluation required and adequate family genetic counseling.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Cromosoma 13 en anillo]]></kwd>
<kwd lng="es"><![CDATA[46, XY, r (13)]]></kwd>
<kwd lng="es"><![CDATA[Clínica]]></kwd>
<kwd lng="es"><![CDATA[Asesoramiento genético]]></kwd>
<kwd lng="en"><![CDATA[Ring chromosome 13]]></kwd>
<kwd lng="en"><![CDATA[46, XY, r (13)]]></kwd>
<kwd lng="en"><![CDATA[Clinic]]></kwd>
<kwd lng="en"><![CDATA[Genetic counselling]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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