<?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>0034-7531</journal-id>
<journal-title><![CDATA[Revista Cubana de Pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Pediatr]]></abbrev-journal-title>
<issn>0034-7531</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75312020000400009</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Genomics of neurodevelopmental disorders]]></article-title>
<article-title xml:lang="es"><![CDATA[Genómica de los trastornos del desarrollo neurológico]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Méndez Rosado]]></surname>
<given-names><![CDATA[Luis Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lantigua Cruz]]></surname>
<given-names><![CDATA[Aracelis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zelenova]]></surname>
<given-names><![CDATA[Maria]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vorsanova]]></surname>
<given-names><![CDATA[Svetlana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Iourov]]></surname>
<given-names><![CDATA[Ivan]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Cytogenetic Laboratory of the National Center of Medical Genetic  ]]></institution>
<addr-line><![CDATA[Havana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,National Center of Medical Genetic  ]]></institution>
<addr-line><![CDATA[Havana ]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Laboratory of Molecular Cytogenetics of Neuropsychiatric Diseases Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University ]]></institution>
<addr-line><![CDATA[Moscow 125412 ]]></addr-line>
<country>Russia</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Yurov&#8217;s Laboratory of Molecular Genetics and Cytogenomics of the Brain Mental Health Research Center ]]></institution>
<addr-line><![CDATA[Moscow 117152 ]]></addr-line>
<country>Russia</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2020</year>
</pub-date>
<volume>92</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312020000400009&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312020000400009&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312020000400009&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Neurodevelopmental disorders (NDD) are featured by a delay in the acquisition of motor functions, cognitive abilities and speech, or combined deficits in these areas with the onset before the age of 5 years. Genetic causes account for approximately a half of all NDD cases.  Objective: to describe alterations of the genome implied in neurodevelopmental disorders and some aspects of their genetic counseling.  Methods: Bibliographic search in Medline, Pubmed, Scielo, LILACS and Cochrane, emphasizing in the last five years, the relationship between the various genetic factors that may be involved in neurodevelopmental disorders.  Results: Multiple genetic factors are involved in neurodevelopmental disorders, from gross ones such as chromosomal aneuploidies to more subtle ones such as variations in the number of copies in the genome. Special emphasis is placed on microdeletion-micro duplication syndromes as a relatively frequent cause of NDDs and their probable mechanisms of formation are explained.  Final Considerations: Genetic aberrations are found in at least 30-50% of children with NDD. Conventional karyotyping allows the detection of chromosomal aberrations encompassing more than 5-7 Mb, which represent 5-10% of causative genome rearrangements in NDD. Molecular karyotyping (e.g. SNP array/array CGH) can significantly improve the yield in patients with NDD and congenital malformations.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: Los trastornos del neurodesarrollo están caracterizados por retardo en la adquisición de las funciones motoras, habilidades cognitivas para el habla o el déficit combinado en estas áreas; se presenta en niños menores de 5 años de edad. Las causas genéticas están implicadas en más de la mitad de los pacientes con estos trastornos  Objetivo:  Examinar las alteraciones del genoma implicados en los trastornos del neurodesarrollo y algunos aspectos de su asesoramiento genético.  Métodos: Búsqueda bibliográfica en Medline, Pubmed, Scielo, LILACS y Cochrane con énfasis en los últimos cinco años, acerca de la relación entre los variados factores genéticos que pueden estar involucrados en los trastornos del neurodesarrollo.  Resultados: Los factores genéticos involucrados pueden ser groseros como las aneuploidías cromosómicas hasta los más sutiles como las variaciones en el número de copias en el genoma. Se describen los síndromes de microdeleción-micro duplicación como una causa relativamente frecuente de los trastornos del neurodesarrollo y se explican sus probables mecanismos de formación. Se relacionan las aneuploidías cromosómicas y las variaciones en el número de copia como causas de estos trastornos.  Consideraciones finales . Las aberraciones genéticas se encuentran en 30-50 % de los niños con trastornos del neurodesarrollo. El cariotipo convencional permite la detección de aberraciones cromosómicas que abarcan más de 5-7 Mb, lo que representa 5-10 % de los reordenamientos genómicos causales en estos trastornos. El cariotipo molecular (por ejemplo, una matriz de SNP/ CGH de matriz) puede mejorar significativamente la certeza del diagnóstico en pacientes con trastornos del neurodesarrollo y malformaciones congénitas.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[CNV]]></kwd>
<kwd lng="en"><![CDATA[chromosomal abnormalities]]></kwd>
<kwd lng="en"><![CDATA[genome]]></kwd>
<kwd lng="en"><![CDATA[genomic aberrations]]></kwd>
<kwd lng="en"><![CDATA[microdeletions]]></kwd>
<kwd lng="en"><![CDATA[microduplications]]></kwd>
<kwd lng="en"><![CDATA[neurodevelopmental disorders]]></kwd>
<kwd lng="es"><![CDATA[variaciones en el número de copias (CNV)]]></kwd>
<kwd lng="es"><![CDATA[anomalías cromosómicas]]></kwd>
<kwd lng="es"><![CDATA[genoma]]></kwd>
<kwd lng="es"><![CDATA[aberraciones del genoma]]></kwd>
<kwd lng="es"><![CDATA[microdeleciones]]></kwd>
<kwd lng="es"><![CDATA[microduplicaciones]]></kwd>
<kwd lng="es"><![CDATA[desordenes del neurodesarrollo]]></kwd>
</kwd-group>
</article-meta>
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