<?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>0186-2391</journal-id>
<journal-title><![CDATA[Acta pediátrica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Acta pediatr. Méx]]></abbrev-journal-title>
<issn>0186-2391</issn>
<publisher>
<publisher-name><![CDATA[Instituto Nacional de Pediatría]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0186-23912016000500271</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Duplicación 5q34q35.3 que involucra el gen NSD1: región delimitada por microarreglos de hibridación genómica comparativa. A propósito de un caso]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vázquez-del Campo]]></surname>
<given-names><![CDATA[AR]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Torres-Maldonado]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez-Sandoval]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Frías- Vázquez]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lieberman-Hernández]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Del Castillo-Ruiz]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Yokoyama- Rebollar]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto Nacional de Pediatría Departamento de Genética Humana ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Nacional de Pediatría  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>México</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,UNAM Instituto de Investigaciones Biomédicas ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Mexico</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>10</month>
<year>2016</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>10</month>
<year>2016</year>
</pub-date>
<volume>37</volume>
<numero>5</numero>
<fpage>271</fpage>
<lpage>281</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0186-23912016000500271&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0186-23912016000500271&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0186-23912016000500271&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen: La duplicación de la región 5q34q35.3 se ha asociado a un fenotipo inverso de síndrome de Sotos, por contener el gen NSD1 en doble dosis. Se presenta a una paciente con retraso global del desarrollo, peso y talla bajos y dismorfias. Cuenta con antecedente de corrección quirúrgica por defectos de septación auriculoventricular (CIA y CIV), así como remodelación por antecedente de cráneo en trébol. El cariotipo con bandas G mostró un resultado 46,XX,add(5)(q35), y para confirmar el origen del material adicional se utilizó sonda de FISH WCP para el cromosoma 5 [46,XX,add(5)(q35).ish dup(5)(q35)(wcp5+)]. Para definir puntos de ruptura y realizar correlación genotipo-fenotipo se realizó microarreglo CytoScan HD de Affymetrix, que confirmó la duplicación intersticial de novo de 14Mb 46,XX,add(5)(q35). arr[hg19] 5q34q35.3(163,110,984-177,227,216x3,177,259,401179,330,764x3,179,346,465-180,719,789x3)dn, que contiene 80 genes (USCS genome browser, NCBI36/hg19). La descripción de este caso es importante para complementar la delineación del fenotipo, mediante la correlación con la región de la duplicación a nivel de nucleótidos. Cabe resaltar que la paciente demuestra la importancia y la utilidad de las nuevas técnicas de citogenética molecular, con las cuales es posible el análisis detallado de los genes localizados en la región 5q involucrada, así como su correlación con las manifestaciones clínicas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract: The 5q34q35.3 duplication has been associated with a reversed Sotos syndrome because it contains double doses of NSD1 gene. We present a female patient with global developmental delay, low weight and height, dysmorphia, a history of surgical closer of atrial and ventricular septal defects and craniosynostosis. A karyotype reported a 5p duplication: 46,XX,add(5)(q35) and the FISH with WCP probes for chromosome 5 reports 46,XX,add(5)(q35).ish dup(5)(q35)(wcp5+). CytoScan HD Affymetrix Microarray was realized to define breakpoints that confirmed a de novo interstitial duplication of 14Mb 46,XX,add(5)(q35). arr[hg19] 5q34q35.3(163,110,984-177,227,216x3,177,259,401179,330,764x3,179,346,465-180,719,789x3)dn, which contains 80 genes (USCS genome browser, NCBI36 / hg19). The description of this case is important to complement the delineation of the phenotype and genotype of the 5q34q35.3 duplication. This case shows the importance and usefulness of the new molecular cytogenetic techniques, with which the detailed analysis of genes localized in the 5q region would not be possible, neither the correlation with its clinical manifestations.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[duplicación 5q34q35.3]]></kwd>
<kwd lng="es"><![CDATA[microarreglos]]></kwd>
<kwd lng="es"><![CDATA[discapacidad intelectual]]></kwd>
<kwd lng="es"><![CDATA[talla baja]]></kwd>
<kwd lng="es"><![CDATA[craneosinostosis]]></kwd>
<kwd lng="en"><![CDATA[5q34q35.3 duplication]]></kwd>
<kwd lng="en"><![CDATA[microarrays]]></kwd>
<kwd lng="en"><![CDATA[intellectual disability]]></kwd>
<kwd lng="en"><![CDATA[short stature]]></kwd>
<kwd lng="en"><![CDATA[craniosynostosis]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Dikow]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Maas]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Gaspar]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Kreiss-Nachtsheim]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Engels]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Kuechler]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Garbes]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Netzer]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Neuhann]]></surname>
<given-names><![CDATA[TM]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet Part A.]]></source>
<year>2013</year>
<volume>161A</volume>
<numero>9</numero>
<issue>9</issue>
<page-range>2158-66</page-range></nlm-citation>
</ref>
<ref id="B2">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Jamsheer]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Sowin&#769;ska]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Simon]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Jamsheer-Bratkowska]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Trzeciak]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Latos-Bielen&#769;ska]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<source><![CDATA[BMC Med Genet.]]></source>
<year>2013</year>
<volume>14</volume>
</nlm-citation>
</ref>
<ref id="B3">
<nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kaiser-Rogers]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Rao]]></surname>
<given-names><![CDATA[KW]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Translocations and Other Structural Rearrangements]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Gersen]]></surname>
<given-names><![CDATA[SL]]></given-names>
</name>
<name>
<surname><![CDATA[Keagle]]></surname>
<given-names><![CDATA[MB]]></given-names>
</name>
</person-group>
<source><![CDATA[Principals of Clinical Cytogenetics]]></source>
<year>2013</year>
<edition>3rd</edition>
<page-range>139-74</page-range><publisher-loc><![CDATA[New York ]]></publisher-loc>
<publisher-name><![CDATA[Springer]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B4">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Chromosomal structural rearrangements: detection and elucidation of mechanisms using cytogenomic technologies]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[South]]></surname>
<given-names><![CDATA[ST]]></given-names>
</name>
</person-group>
<source><![CDATA[Clin Lab Med.]]></source>
<year>2011</year>
<volume>31</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>513-24</page-range></nlm-citation>
</ref>
<ref id="B5">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Fluorescence in situ hybridization: past, present and future]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Levsky]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
<name>
<surname><![CDATA[Singer]]></surname>
<given-names><![CDATA[RH]]></given-names>
</name>
</person-group>
<source><![CDATA[J Cell Sci.]]></source>
<year>2003</year>
<volume>116</volume>
<numero>14</numero>
<issue>14</issue>
<page-range>2833-8</page-range></nlm-citation>
</ref>
<ref id="B6">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Cytogenetic analysis by chromosome painting]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Carter]]></surname>
<given-names><![CDATA[NP]]></given-names>
</name>
</person-group>
<source><![CDATA[Cytometry]]></source>
<year>1994</year>
<volume>18</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>2-10</page-range></nlm-citation>
</ref>
<ref id="B7">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Neill]]></surname>
<given-names><![CDATA[NJ]]></given-names>
</name>
<name>
<surname><![CDATA[Torchia]]></surname>
<given-names><![CDATA[BS]]></given-names>
</name>
<name>
<surname><![CDATA[Bejjani]]></surname>
<given-names><![CDATA[BA]]></given-names>
</name>
<name>
<surname><![CDATA[Shaffer]]></surname>
<given-names><![CDATA[LG]]></given-names>
</name>
<name>
<surname><![CDATA[Ballif]]></surname>
<given-names><![CDATA[BC]]></given-names>
</name>
</person-group>
<source><![CDATA[Mol Cytogenet.]]></source>
<year>2010</year>
<volume>3</volume>
</nlm-citation>
</ref>
<ref id="B8">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[The NSD1 and EZH2 overgrowth genes, similarities and differences]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Tatton-Brown]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Rahman]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet Part C Semin Med Genet.]]></source>
<year>2013</year>
<volume>163C</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>86-91</page-range></nlm-citation>
</ref>
<ref id="B9">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Douglas]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Hanks]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Temple]]></surname>
<given-names><![CDATA[IK]]></given-names>
</name>
<name>
<surname><![CDATA[Davies]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Murray]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Upadhyaya]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Tomkins]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Hughes]]></surname>
<given-names><![CDATA[HE]]></given-names>
</name>
<name>
<surname><![CDATA[Cole]]></surname>
<given-names><![CDATA[TR]]></given-names>
</name>
<name>
<surname><![CDATA[Rahman]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Hum Genet.]]></source>
<year>2003</year>
<volume>72</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>132-43</page-range></nlm-citation>
</ref>
<ref id="B10">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Pelegrino]]></surname>
<given-names><![CDATA[K de O]]></given-names>
</name>
<name>
<surname><![CDATA[Sugayama]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Lezirovitz]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Catelani]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kok]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Chauffaille]]></surname>
<given-names><![CDATA[M de L]]></given-names>
</name>
</person-group>
<source><![CDATA[Clinics]]></source>
<year>2012</year>
<volume>67</volume>
<numero>8</numero>
<issue>8</issue>
<page-range>981-5</page-range><publisher-loc><![CDATA[Sao Paulo ]]></publisher-loc>
</nlm-citation>
</ref>
<ref id="B11">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Craniosynostosis: genes and mechanisms]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wilkie]]></surname>
<given-names><![CDATA[AO]]></given-names>
</name>
</person-group>
<source><![CDATA[Hum Mol Genet.]]></source>
<year>1997</year>
<volume>6</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>1647-56</page-range></nlm-citation>
</ref>
<ref id="B12">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[J-C]]></given-names>
</name>
<name>
<surname><![CDATA[Steinraths]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Dang]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Lomax]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Eydoux]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Stockley]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Yong]]></surname>
<given-names><![CDATA[S-L]]></given-names>
</name>
<name>
<surname><![CDATA[Van Allen]]></surname>
<given-names><![CDATA[MI]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet Part A.]]></source>
<year>2007</year>
<volume>143A</volume>
<numero>24</numero>
<issue>24</issue>
<page-range>2931-6</page-range></nlm-citation>
</ref>
<ref id="B13">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[FGFR4 transmembrane domain polymorphism and cancer risk: a meta-analysis including 8555 subjects]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Zhao]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<source><![CDATA[Eur J Cancer]]></source>
<year>2010</year>
<volume>46</volume>
<numero>18</numero>
<issue>18</issue>
<page-range>3332-8</page-range></nlm-citation>
</ref>
<ref id="B14">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Epigenetic mechanisms in cardiac development and disease]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vallaster]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Vallaster]]></surname>
<given-names><![CDATA[CD]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
</person-group>
<source><![CDATA[Acta Biochim Biophys Sin]]></source>
<year>2012</year>
<volume>44</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>92-102</page-range><publisher-loc><![CDATA[Shangai ]]></publisher-loc>
</nlm-citation>
</ref>
<ref id="B15">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Syndromic Craniosynostosis Due to Complex Chromosome 5 Rearrangement and MSX2 Gene Triplication]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bernardini]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Capalbo]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Mokini]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Mingareli]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Simi]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Bertuccelli]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Novelli]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Dallapiccola]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet Part A.]]></source>
<year>2007</year>
<volume>143A</volume>
<page-range>2937-43</page-range></nlm-citation>
</ref>
<ref id="B16">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kariminejad]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Kariminejad]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Tzschach]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Ullmann]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Ahmed]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Asghari-Roodsari]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Salehpour]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Afroozan]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Ropers]]></surname>
<given-names><![CDATA[HH]]></given-names>
</name>
<name>
<surname><![CDATA[Kariminejad]]></surname>
<given-names><![CDATA[MH]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet Part A.]]></source>
<year>2009</year>
<volume>149A</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>1544-9</page-range></nlm-citation>
</ref>
<ref id="B17">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rosenfeld]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Kim]]></surname>
<given-names><![CDATA[KH]]></given-names>
</name>
<name>
<surname><![CDATA[Angle]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Troxell]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Gorski]]></surname>
<given-names><![CDATA[JL]]></given-names>
</name>
<name>
<surname><![CDATA[Westemeyer]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Frydman]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<source><![CDATA[Mol Syndromol.]]></source>
<year>2013</year>
<volume>3</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>247-54</page-range></nlm-citation>
</ref>
<ref id="B18">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[CP]]></given-names>
</name>
<name>
<surname><![CDATA[Lin]]></surname>
<given-names><![CDATA[SP]]></given-names>
</name>
<name>
<surname><![CDATA[Lin]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[YJ]]></given-names>
</name>
<name>
<surname><![CDATA[Chern]]></surname>
<given-names><![CDATA[SR]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[YC]]></given-names>
</name>
<name>
<surname><![CDATA[Hsieh]]></surname>
<given-names><![CDATA[LJ]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
<name>
<surname><![CDATA[Pan]]></surname>
<given-names><![CDATA[CW]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet Part A]]></source>
<year>2006</year>
<volume>140A</volume>
<page-range>1594-600</page-range></nlm-citation>
</ref>
<ref id="B19">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Franco]]></surname>
<given-names><![CDATA[LM]]></given-names>
</name>
<name>
<surname><![CDATA[de Ravel]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Graham]]></surname>
<given-names><![CDATA[BH]]></given-names>
</name>
<name>
<surname><![CDATA[Frenkel]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Van Driessche]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Stankiewicz]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Lupski]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Vermeesch]]></surname>
<given-names><![CDATA[JR]]></given-names>
</name>
<name>
<surname><![CDATA[Cheung]]></surname>
<given-names><![CDATA[SW]]></given-names>
</name>
</person-group>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2010</year>
<volume>18</volume>
<page-range>258-61</page-range></nlm-citation>
</ref>
<ref id="B20">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kirchhoff]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Bisgaard]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
<name>
<surname><![CDATA[Bryndorf]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
</person-group>
<source><![CDATA[Eur J Med Genet.]]></source>
<year>2007</year>
<volume>50</volume>
<page-range>33-42</page-range></nlm-citation>
</ref>
<ref id="B21">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Lu]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Beasley]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Mulvihill]]></surname>
<given-names><![CDATA[JJ]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Lee]]></surname>
<given-names><![CDATA[JY]]></given-names>
</name>
</person-group>
<source><![CDATA[Am J Med Genet A.]]></source>
<year>2011</year>
<volume>155A</volume>
<page-range>1374-8</page-range></nlm-citation>
</ref>
<ref id="B22">
<nlm-citation citation-type="journal">
<article-title xml:lang=""><![CDATA[Molecular mechanisms for constitutional chromosomal rearrangements in humans]]></article-title>
<person-group person-group-type="author">
<name>
<surname><![CDATA[Shaffer]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Lupski]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<source><![CDATA[Annu. Rev. Genet.]]></source>
<year>2000</year>
<volume>34</volume>
<page-range>297-329</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
