<?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>2182-4452</journal-id>
<journal-title><![CDATA[Revista Internacional em Língua Portuguesa]]></journal-title>
<abbrev-journal-title><![CDATA[RILP]]></abbrev-journal-title>
<issn>2182-4452</issn>
<publisher>
<publisher-name><![CDATA[Associação das Universidades de  Língua Portuguesa (AULP)]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2182-44522018000200149</article-id>
<article-id pub-id-type="doi">10.31492/2184-2043.rilp2018.34/pp.149-172</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Abordagens citogenéticas e genómicas: perspetiva no diagnóstico em oncologia e nas patologias do neurodesenvolvimento]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ribeiro]]></surname>
<given-names><![CDATA[Ilda Patrícia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carreira]]></surname>
<given-names><![CDATA[Isabel Marques]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Melo]]></surname>
<given-names><![CDATA[Joana Barbosa de]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidade de Coimbra (LCG-FMUC) Laboratório de Citogenética e Genómica, Faculdade de Medicina Centro de Investigação em Meio Ambiente, Genética e Oncobiologia (CIMAGO)]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>12</month>
<year>2018</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>12</month>
<year>2018</year>
</pub-date>
<volume>34</volume>
<fpage>149</fpage>
<lpage>172</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2182-44522018000200149&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2182-44522018000200149&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2182-44522018000200149&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo As técnicas de citogenética e genómica permitem uma caracterização abrangente ou mais direcionada do genoma nuclear humano. A seleção do tipo de técnica a utilizar depende do objetivo do estudo, sendo sempre importante a correlação genótipo-fenótipo para uma correta interpretação dos resultados. Neste artigo apresentamos e discutimos algumas das principais tecnologias no campo da citogenética e genómica aplicadas no âmbito do diagnóstico e da investigação, evidenciando as suas vantagens em áreas tão diferentes como a oncologia e as patologias do neurodesenvolvimento. De facto, o cancro está associado à aquisição de várias alterações genéticas e epigenéticas nas células que devem ser caracterizadas e, do mesmo modo, as perturbações do neurodesenvolvimento que resultam de alterações neurobiológicas têm frequentemente origem em alterações genéticas. Assim, tanto em cancro como em patologias do neurodesenvolvimento, o recurso às várias técnicas de citogenética convencional, molecular e genómica é essencial, não só no âmbito da investigação mas também no diagnóstico e prognóstico, com o intuito de identificar e caracterizar alterações genéticas e padrões epigenéticos associados ao desenvolvimento e progressão da doença.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Cytogenetic and genomic techniques allow a comprehensive or a more targeted characterization of the nuclear genome. The selection of the techniques to be used depends on the study&#8217;s aim; however, it is always important to correlate the genotype with the phenotype for a correct interpretation of the results. In this paper we present and discuss some of the main technologies in the field of cytogenetics and genomics used in the diagnosis and research, highlighting their advantages in such different areas such as oncology and neurodevelopmental disorders. Indeed, cancer is associated with several genetic and epigenetic alterations in cells that should be characterized and, in the same way, neurodevelopmental disorders, namely intellectual disability and autism spectrum disorders, that result from neurobiological alterations to the normal development of the fetus and/or child, frequently caused by genetic and epigenetic alterations. Therefore, both in cancer and neurodevelopment disorders the use of conventional and molecular cytogenetics and genomics techniques is essential for research, diagnosis and prognosis, in order to identify genetic alterations and epigenetic patterns associated to the development and progression of the disease.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[citogenética]]></kwd>
<kwd lng="pt"><![CDATA[genómica]]></kwd>
<kwd lng="pt"><![CDATA[epigenética]]></kwd>
<kwd lng="pt"><![CDATA[cancro]]></kwd>
<kwd lng="pt"><![CDATA[patologias do neurodesenvolvimento]]></kwd>
<kwd lng="pt"><![CDATA[variação do número de cópias]]></kwd>
<kwd lng="pt"><![CDATA[biomarcadores de diagnóstico e prognóstico]]></kwd>
<kwd lng="en"><![CDATA[cytogenetics]]></kwd>
<kwd lng="en"><![CDATA[genomics]]></kwd>
<kwd lng="en"><![CDATA[epigenetics]]></kwd>
<kwd lng="en"><![CDATA[cancer]]></kwd>
<kwd lng="en"><![CDATA[neurodevelopmental disorders]]></kwd>
<kwd lng="en"><![CDATA[copy number variation]]></kwd>
<kwd lng="en"><![CDATA[diagnostic and prognostic biomarkers]]></kwd>
</kwd-group>
</article-meta>
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