<?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>2007-4085</journal-id>
<journal-title><![CDATA[Revista mexicana de urología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. mex. urol.]]></abbrev-journal-title>
<issn>2007-4085</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Mexicana de Urología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2007-40852021000300001</article-id>
<article-id pub-id-type="doi">10.48193/rmu.v81i3.711</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Chromosomal and SRY gene findings by FISH in patients with disorders of sexual development]]></article-title>
<article-title xml:lang="es"><![CDATA[Hallazgos cromosómicos y del gen SRY por FISH en pacientes con trastornos del desarrollo sexual]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Herrera]]></surname>
<given-names><![CDATA[Laura Andrea]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zarante]]></surname>
<given-names><![CDATA[Ignacio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Clavijo]]></surname>
<given-names><![CDATA[Ana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suárez]]></surname>
<given-names><![CDATA[Fernando]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rojas]]></surname>
<given-names><![CDATA[Adriana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Pérez]]></surname>
<given-names><![CDATA[Jaime]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Céspedes]]></surname>
<given-names><![CDATA[Camila]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Forero]]></surname>
<given-names><![CDATA[Catalina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández]]></surname>
<given-names><![CDATA[Nicolás]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bolívar]]></surname>
<given-names><![CDATA[John]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Moreno-Niño]]></surname>
<given-names><![CDATA[Olga]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Pontificia Universidad Javeriana  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital Universitario San Ignacio  ]]></institution>
<addr-line><![CDATA[Bogotá ]]></addr-line>
<country>Colombia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2021</year>
</pub-date>
<volume>81</volume>
<numero>3</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S2007-40852021000300001&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S2007-40852021000300001&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S2007-40852021000300001&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Objective: Disorders of sexual development are a group of congenital diseases that affect the normal formation of genital structures. Within the pathophysiologic mechanisms described, there are genetic factors caused by chromosomal or sex-determining gene alterations. Therefore, chromosomal analysis is an essential priority in the diagnostic approach. Alterations in the chromosomes and the SRY gene as a cause of disorder of sexual development was analyzed herein.  Material and methods: G or R-banding karyotype and FISH analyses for the SRY gene were performed in lymphocytes, gonadal tissue, and scrotal tissue in twelve cases, three cases, and one case, respectively. The clinical information was obtained from the patients&#8217; medical reports.  Results: In 9 (73%) cases, the assigned sex was male, and in 3 (27%) cases, it was female. Karyotype 46,XY was found in 8 (66%) cases, 46,XX in 2 (17%) cases, and mosaic karyotype in 2 (17%) cases with idic(Y). A single case of gonadal tissue showed mosaicism due to the presence of a tetraploid cell line. The most common clinical diagnosis was abnormal genital differentiation in 8 (67%) cases, followed by hypospadias in 5 (41.7%) cases.  Conclusions: The results show the importance of applying different cytogenetic tests in making the diagnosis, and the need for a multidisciplinary team to address the disorder.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Objetivo: Los trastornos del desarrollo sexual son un grupo de enfermedades congénitas que afectan la formación normal de los genitales. Dentro los mecanismos fisiopatológicos descritos existen factores genéticos causados por alteraciones cromosómicas o en los genes determinantes en la diferenciación sexual. En este trabajo se analizaron alteraciones cromosómicas y en el gen SRY como posible causa del trastorno. Se realizó cariotipo con bandas G o R y FISH para SRY en linfocitos, tejido gonadal y tejido escrotal.  Materiales y métodos: La información clínica de los sujetos de investigación se obtuvo de los informes de los médicos tratantes. En 9 (73%) casos el sexo asignado fue masculino y en 3 (27%) casos fue femenino. 8 de los casos (66%) tuvieron cariotipo 46,XY; 2 casos (17%) 46,XX y en 2 casos (17%) se reportaron mosaicos con presencia de idic(Y). Un solo caso de tejido gonadal mostró mosaicismo debido a la presencia de una línea celular tetraploide. El diagnóstico clínico más frecuente fue de genitales ambiguos en 8 casos (67%). Seguido de hipospadias en 5 casos (41,7%).  Conclusiones: Los resultados muestran la importancia de aplicar diferentes pruebas citogenéticas en el diagnóstico y la necesidad del seguimiento de los pacientes por un equipo transdisciplinario para abordar estas condiciones clínicas.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Disorders of sexual development]]></kwd>
<kwd lng="en"><![CDATA[Karyotype]]></kwd>
<kwd lng="en"><![CDATA[FISH]]></kwd>
<kwd lng="en"><![CDATA[SRY gene]]></kwd>
<kwd lng="en"><![CDATA[chromosomal mosaicism]]></kwd>
<kwd lng="en"><![CDATA[Isodicentric Y chromosome]]></kwd>
<kwd lng="es"><![CDATA[Trastornos del desarrollo sexual]]></kwd>
<kwd lng="es"><![CDATA[cariotipo]]></kwd>
<kwd lng="es"><![CDATA[FISH]]></kwd>
<kwd lng="es"><![CDATA[gen SRY]]></kwd>
<kwd lng="es"><![CDATA[Mosaico cromosómico]]></kwd>
<kwd lng="es"><![CDATA[cromosoma Y isodicéntrico]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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