<?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>1699-695X</journal-id>
<journal-title><![CDATA[Revista Clínica de Medicina de Familia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Clin Med Fam]]></abbrev-journal-title>
<issn>1699-695X</issn>
<publisher>
<publisher-name><![CDATA[Sociedad Española de Medicina de Familia y Comunitaria]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1699-695X2020000300214</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Hipoplasia cerebelosa y duplicación de 15q11.2. ¿Hallazgos genéticos casuales?]]></article-title>
<article-title xml:lang="en"><![CDATA[Cerebellar hypoplasia and 15q11.2 duplication, casual genetic findings?]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sierra-Santos]]></surname>
<given-names><![CDATA[Lucía]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ejarque-Doménech]]></surname>
<given-names><![CDATA[Ismael]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Maqueda-Zamora]]></surname>
<given-names><![CDATA[Gloria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Romero-Barzola]]></surname>
<given-names><![CDATA[Yamina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A4b"/>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro de Salud de Manzanares el Real  ]]></institution>
<addr-line><![CDATA[Manzanares el Real Madrid]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,Consultorio Local de Chera  ]]></institution>
<addr-line><![CDATA[Chera Valencia]]></addr-line>
</aff>
<aff id="Af3">
<institution><![CDATA[,Centro de Salud de Manzanares el Real  ]]></institution>
<addr-line><![CDATA[Manzanares el Real Madrid]]></addr-line>
</aff>
<aff id="A4a">
<institution><![CDATA[,Centro de Salud Barrio del Pilar  ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
</aff>
<aff id="A4b">
<institution><![CDATA[,Sociedad Española de Medicina de Familia y Comunitaria (semFYC) Grupo de Trabajo de Neurología ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af5">
<institution><![CDATA[,Hospital Universitario La Paz  ]]></institution>
<addr-line><![CDATA[Madrid ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2020</year>
</pub-date>
<volume>13</volume>
<numero>3</numero>
<fpage>214</fpage>
<lpage>218</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S1699-695X2020000300214&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_abstract&amp;pid=S1699-695X2020000300214&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.isciii.es/scielo.php?script=sci_pdf&amp;pid=S1699-695X2020000300214&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Presentamos el caso de una niña diagnosticada a los 4 meses de edad de hipoplasia congénita grave del cerebelo, con clínica leve de nistagmo horizontal e hipotonía moderada. A pesar de su alteración, a los nueve años de edad ha presentado una evolución favorable con independencia motriz y buena evolución académica, intelectual y social. El estudio genético ha descubierto una duplicación 15q11.2, afectación que habitualmente se manifiesta con autismo, convulsiones y gran déficit intelectual, que nuestra paciente no presenta. Nos cuestionamos si ambos diagnósticos están o no relacionados o se trata de una asociación casual.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT We present the case of a young girl diagnosed at the age of 4 months with severe congenital cerebellar hypoplasia, with mild horizontal nystagmus and moderate hypotonia. Despite this condition, at the age of 9 she has presented a favorable evolution, with motor independence and a positive academic, intellectual and social evolution. The genetic study has found 15q11.2 duplication, which usually manifests itself as autism, seizures, and great intellectual deficit, all of which are not present in our patient. We wonder whether these two diagnoses are connected or whether it is a casual link.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Asesoramiento Genético]]></kwd>
<kwd lng="es"><![CDATA[Enfermedades Cerebelosas]]></kwd>
<kwd lng="es"><![CDATA[Trastornos Cerebrovasculares]]></kwd>
<kwd lng="en"><![CDATA[Genetic Counseling]]></kwd>
<kwd lng="en"><![CDATA[Cerebellar Diseases]]></kwd>
<kwd lng="en"><![CDATA[Cerebrovascular Disorders]]></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[Howley]]></surname>
<given-names><![CDATA[MM]]></given-names>
</name>
<name>
<surname><![CDATA[Keppler-Noreuil]]></surname>
<given-names><![CDATA[KM]]></given-names>
</name>
<name>
<surname><![CDATA[Cunnif]]></surname>
<given-names><![CDATA[CM]]></given-names>
</name>
<name>
<surname><![CDATA[Browne]]></surname>
<given-names><![CDATA[ML]]></given-names>
</name>
</person-group>
<collab>National Birth Defects Prevention Study</collab>
<article-title xml:lang=""><![CDATA[Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study]]></article-title>
<source><![CDATA[Birth Defects Res]]></source>
<year>2018</year>
<volume>110</volume>
<numero>19</numero>
<issue>19</issue>
<page-range>1419-32</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[Poretti]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Boltshauser]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Huisman]]></surname>
<given-names><![CDATA[TA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Prenatal cerebellar disruptions: neuroimaging spectrum of findings in correlation with likely mechanisms and etiologies of injury]]></article-title>
<source><![CDATA[Neuroimaging Clin N Am]]></source>
<year>2016</year>
<volume>26</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>359-72</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[Burnside]]></surname>
<given-names><![CDATA[RD]]></given-names>
</name>
<name>
<surname><![CDATA[Pasion]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Mikhail]]></surname>
<given-names><![CDATA[FM]]></given-names>
</name>
<name>
<surname><![CDATA[Carroll]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Robin]]></surname>
<given-names><![CDATA[NH]]></given-names>
</name>
<name>
<surname><![CDATA[Youngs]]></surname>
<given-names><![CDATA[EL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay]]></article-title>
<source><![CDATA[Hum Genet]]></source>
<year>2011</year>
<volume>130</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>517-28</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[Pascual-Castroviejo]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Santolaya]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Tendero]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Developmental Defects of the cerebellum. A radiologic and anatomic investigation]]></article-title>
<source><![CDATA[Acta Radiol Suppl]]></source>
<year>1976</year>
<volume>16</volume>
<numero>347</numero>
<issue>347</issue>
<page-range>553-60</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[Boyd]]></surname>
<given-names><![CDATA[CA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cerebellar agenesis revisited]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2010</year>
<volume>133</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>941-4</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[Lemon]]></surname>
<given-names><![CDATA[RN]]></given-names>
</name>
<name>
<surname><![CDATA[Edgley]]></surname>
<given-names><![CDATA[SA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Life without a cerebellum]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2010</year>
<volume>133</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>652-4</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[Pinchefsky]]></surname>
<given-names><![CDATA[EF]]></given-names>
</name>
<name>
<surname><![CDATA[Accogli]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Shevell]]></surname>
<given-names><![CDATA[MI]]></given-names>
</name>
<name>
<surname><![CDATA[Saint-Martin]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Srour]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Developmental outcomes in children with congenital cerebellar malformations]]></article-title>
<source><![CDATA[Dev Med Child Neurol]]></source>
<year>2018</year>
<volume>61</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>350-8</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ginevra]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
</person-group>
<source><![CDATA[Hipoplasia / agenesia cerebelosa aislada]]></source>
<year></year>
</nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vanlerberghe]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Petit]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Malan]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Vicent-Delorme]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Bouquillon]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Boute]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients]]></article-title>
<source><![CDATA[Eur J Med Genet]]></source>
<year>2015</year>
<volume>58</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>140-7</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[Benítez-Burraco]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Barcos-Martínez]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Espejo-Portero]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Jimenez-Romero]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Variable penetrance of the 15q11.2 BP1-BP2 microduplication in a family with cognitive and language impairment]]></article-title>
<source><![CDATA[Mol Syndromol]]></source>
<year>2017</year>
<volume>8</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>139-47</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
