<?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>1657-9534</journal-id>
<journal-title><![CDATA[Colombia Médica]]></journal-title>
<abbrev-journal-title><![CDATA[Colomb. Med.]]></abbrev-journal-title>
<issn>1657-9534</issn>
<publisher>
<publisher-name><![CDATA[Universidad del Valle]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1657-95342018000300219</article-id>
<article-id pub-id-type="doi">10.25100/cm.v49i2.3402</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features]]></article-title>
<article-title xml:lang="es"><![CDATA[Deleción 22q11.2 detectada por hibridación in situ en pacientes mexicanos con características clínicas similares al síndrome velocardiofacial]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-Velazco]]></surname>
<given-names><![CDATA[Azubel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rivera]]></surname>
<given-names><![CDATA[Horacio]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vásquez-Velázquez]]></surname>
<given-names><![CDATA[Ana Isabel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Aguayo-Orozco]]></surname>
<given-names><![CDATA[Thania Alejandra]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Delgadillo-Pérez]]></surname>
<given-names><![CDATA[Saturnino]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Domínguez]]></surname>
<given-names><![CDATA[Maria Guadalupe]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Guadalajara Doctorado en Genética Humana ]]></institution>
<addr-line><![CDATA[Guadalajara ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Mexicano del Seguro Social División de Genética ]]></institution>
<addr-line><![CDATA[Guadalajara ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Hospital de Pediatría- UMAE-CMNO ]]></institution>
<addr-line><![CDATA[Guadalajara ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2018</year>
</pub-date>
<volume>49</volume>
<numero>3</numero>
<fpage>219</fpage>
<lpage>222</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S1657-95342018000300219&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S1657-95342018000300219&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S1657-95342018000300219&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies.  Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay).  Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe.  Results:  Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12).  Conclusion:  In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Introducción:  La deleción 22q11.2 ocurre con una frecuencia de 1:4,000-1:6,000 nacidos vivos, mientras que la deleción 10p13p14 es detectada en 1:200,000 recién nacidos. Ambas deleciones comparten características clínicas similares tales como defectos cardiacos congénitos y anomalías inmunológicas.  Objetivo:  Identificar la deleción 22q11.2 en pacientes mexicanos con dismorfismo craneofacial sugestivo de síndrome DiGeorge o velocardiofacial y por lo menos con una característica clínica mayor (anomalía cardiaca, deficiencia inmunológica, defectos en paladar o retardo en el desarrollo)  Métodos:  Estudio prospectivo de 39 pacientes captados entre 2012-2015 en el Instituto Mexicano del Seguro Social en Guadalajara, México. Los pacientes con características clínicas sugerentes de síndrome velocardiofacial o diagnostico confirmado de tetralogía de Fallot (TOF) o cardiopatía compleja fueron estudiados por bandas G y por hibridación in situ fluorescente (FISH) con una sonda dual TUPLE1(HIRA)/ARSA o TUPLE1(22q11)/22q13(SHANK3), seis pacientes sin la deleción 22q11.2 (seleccionados arbitrariamente) fueron estudiados con la sonda dual DiGeorge II (10p14)/D10Z1.  Resultados:  Veintidós pacientes (7 hombres y 15 mujeres) tuvieron la deleción 22q11.2 y 17/39 no la tuvieron, ningún paciente tuvo la pérdida de 10p. Entre los 22 pacientes delecionados, 19 tuvieron defecto cardiaco congénito (principalmente TOF). Doce pacientes sin la deleción tuvieron defectos cardiacos congénitos como TOF (4/12), defecto del septo ventricular aislado (2/12) y otros trastornos cardiacos (6/12).  Conclusión:  En nuestra pequeña muestra, alrededor de ~56% de los pacientes, independientemente de su diagnostico clínico, tuvieron la deleción 22q11.2 esperada. Resaltamos la importancia del diagnóstico citogenético temprano para determinar un apropiado manejo integral para el paciente y sus familiares.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[22q11.2 deletion]]></kwd>
<kwd lng="en"><![CDATA[DiGeorge syndrome]]></kwd>
<kwd lng="en"><![CDATA[velocardiofacial syndrome]]></kwd>
<kwd lng="en"><![CDATA[congenital heart defects.]]></kwd>
<kwd lng="en"><![CDATA[Tetralogy of Fallot]]></kwd>
<kwd lng="en"><![CDATA[craniofacial abnormalities]]></kwd>
<kwd lng="es"><![CDATA[Deleción 22q11.2]]></kwd>
<kwd lng="es"><![CDATA[Síndrome DiGeorge]]></kwd>
<kwd lng="es"><![CDATA[Síndrome velocardiofacial]]></kwd>
<kwd lng="es"><![CDATA[Defectos cardiacos congénitos]]></kwd>
<kwd lng="es"><![CDATA[tetralogia de Fallot]]></kwd>
<kwd lng="es"><![CDATA[abnormalidades craneofaciales]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[McDonald-McGinn]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Sullivan]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Chromosome 22q11 2 deletion syndrome (DiGeorge syndrome/Velocardiofacial syndrome)]]></article-title>
<source><![CDATA[Medicine (Baltimore)]]></source>
<year>2011</year>
<volume>90</volume>
<page-range>1-18</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Yatsenko]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
<name>
<surname><![CDATA[Yatsenko]]></surname>
<given-names><![CDATA[AN]]></given-names>
</name>
<name>
<surname><![CDATA[Szigeti]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Craigen]]></surname>
<given-names><![CDATA[WJ]]></given-names>
</name>
<name>
<surname><![CDATA[Stankiewicz]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Cheung]]></surname>
<given-names><![CDATA[SW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome]]></article-title>
<source><![CDATA[Clin Genet]]></source>
<year>2004</year>
<volume>66</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>128-36</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[de Vree]]></surname>
<given-names><![CDATA[PJ]]></given-names>
</name>
<name>
<surname><![CDATA[Simon]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
<name>
<surname><![CDATA[van Dooren]]></surname>
<given-names><![CDATA[MF]]></given-names>
</name>
<name>
<surname><![CDATA[Stoevelaar]]></surname>
<given-names><![CDATA[GH]]></given-names>
</name>
<name>
<surname><![CDATA[Hilkmann]]></surname>
<given-names><![CDATA[JT]]></given-names>
</name>
<name>
<surname><![CDATA[Rongen]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype case report]]></article-title>
<source><![CDATA[Mol Cytogenet]]></source>
<year>2009</year>
<volume>2</volume>
<page-range>15</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Melis]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Genesio]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Boemio]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Del Giudice]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Cappuccio]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Mormile]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical description of a patient carrying the smallest reported deletion involving 10p14 region]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2012</year>
<volume>158A</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>832-5</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fukai]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Ochi]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Murakami]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Nakashima]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Tsurusaki]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Saitsu]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Co-occurrence of 22q11 deletion syndrome and HDR syndrome]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2013</year>
<volume>161A</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>2576-81</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Del Carmen Montes]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Sturich]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Chaves]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Juaneda]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Orellana]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[De Rossi]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical findings in 32 patients with 22qll 2 microdeletion attended in the city of Córdoba, Argentina]]></article-title>
<source><![CDATA[Arch Argent Pediatr]]></source>
<year>2013</year>
<volume>111</volume>
<numero>5</numero>
<issue>5</issue>
<page-range>423-7</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Márquez-Ávila]]></surname>
<given-names><![CDATA[CS]]></given-names>
</name>
<name>
<surname><![CDATA[Vizcaíno-Alarcón]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[García-Delgado]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Núñez-Martínez]]></surname>
<given-names><![CDATA[PM]]></given-names>
</name>
<name>
<surname><![CDATA[Flores-Ramírez]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Reyes-de la Rosa Adel]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Velocardiofacial syndrome in Mexican patients Unusually high prevalence of congenital heart disease]]></article-title>
<source><![CDATA[Int J Pediatr Otorhinolaryngol]]></source>
<year>2015</year>
<volume>79</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>1886-91</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ramírez Velazco]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<source><![CDATA[Detección por FISH de las deleciones 22q11.2 Y 10p13p14 en pacientes con síndrome DiGeorge, síndrome velocardiofacial o defectos conotroncales]]></source>
<year>2014</year>
<publisher-loc><![CDATA[Mexico ]]></publisher-loc>
<publisher-name><![CDATA[Universidad de Guadalajara]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rosa]]></surname>
<given-names><![CDATA[RFM]]></given-names>
</name>
<name>
<surname><![CDATA[Rosa]]></surname>
<given-names><![CDATA[RCM]]></given-names>
</name>
<name>
<surname><![CDATA[Trevisa]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Graziadio]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Varella-Garcia]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Paskulin]]></surname>
<given-names><![CDATA[GA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Screening for 22q11.2 deletion syndrome among patients with congenital heart defects]]></article-title>
<source><![CDATA[Sao Paulo Med J]]></source>
<year>2014</year>
<volume>132</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>125-6</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Guilherme]]></surname>
<given-names><![CDATA[RS]]></given-names>
</name>
<name>
<surname><![CDATA[Soares]]></surname>
<given-names><![CDATA[KC]]></given-names>
</name>
<name>
<surname><![CDATA[Simioni]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Vieira]]></surname>
<given-names><![CDATA[TP]]></given-names>
</name>
<name>
<surname><![CDATA[Gil-da-Silva-Lopes]]></surname>
<given-names><![CDATA[VL]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11 2 deletion]]></article-title>
<source><![CDATA[Am J Med Genet A]]></source>
<year>2014</year>
<volume>164A</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>1659-65</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
