<?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>2176-6223</journal-id>
<journal-title><![CDATA[Revista Pan-Amazônica de Saúde]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Pan-Amaz Saude]]></abbrev-journal-title>
<issn>2176-6223</issn>
<publisher>
<publisher-name><![CDATA[Instituto Evandro Chagas. Secretaria de Vigilância em Saúde e Ambiente. Ministério da Saúde]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2176-62232025000100041</article-id>
<article-id pub-id-type="doi">10.5123/s2176-6223202501681</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Translocação rara t(12;13) em paciente com dismorfias e distúrbio do desenvolvimento]]></article-title>
<article-title xml:lang="en"><![CDATA[Rare translocation t(12;13) in a patient with dysmorphisms and developmental disorder]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Benzaquem]]></surname>
<given-names><![CDATA[Denise Corrêa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[Evellyn Karine Cruz da]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rocha]]></surname>
<given-names><![CDATA[Ruan Barbosa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ferreira]]></surname>
<given-names><![CDATA[Jorge Frank Braga]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Prazeres]]></surname>
<given-names><![CDATA[Vania Mesquita Gadelha]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Oliveira]]></surname>
<given-names><![CDATA[Edivaldo Herculano Corrêa de]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[Fabio Augusto Oliveira]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fantin]]></surname>
<given-names><![CDATA[Cleiton]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidade do Estado do Amazonas Laboratório de Citogenética Escola Superior de Ciências da Saúde]]></institution>
<addr-line><![CDATA[Manaus Amazonas]]></addr-line>
<country>Brazil</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidade do Estado do Amazonas Programa Multicêntrico de Pós-Graduação em Bioquímica e Biologia Molecular ]]></institution>
<addr-line><![CDATA[Manaus Amazonas]]></addr-line>
<country>Brazil</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidade Federal do Amazonas  ]]></institution>
<addr-line><![CDATA[Manaus Amazonas]]></addr-line>
<country>Brazil</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Secretaria de Estado de Saúde do Amazonas  ]]></institution>
<addr-line><![CDATA[Manaus Amazonas]]></addr-line>
<country>Brasil</country>
</aff>
<aff id="Af5">
<institution><![CDATA[,Instituto Evandro Chagas  ]]></institution>
<addr-line><![CDATA[Ananindeua Pará]]></addr-line>
<country>Brasil</country>
</aff>
<aff id="Af6">
<institution><![CDATA[,Universidade Federal do Pará  ]]></institution>
<addr-line><![CDATA[Belém Pará]]></addr-line>
<country>Brazil</country>
</aff>
<aff id="Af7">
<institution><![CDATA[,Universidade Federal do Pará Programa de Pós-Graduação em Neurociências e Biologia Celular ]]></institution>
<addr-line><![CDATA[Belém Pará]]></addr-line>
<country>Brazil</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<volume>16</volume>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iec.gov.br/scielo.php?script=sci_arttext&amp;pid=S2176-62232025000100041&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iec.gov.br/scielo.php?script=sci_abstract&amp;pid=S2176-62232025000100041&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iec.gov.br/scielo.php?script=sci_pdf&amp;pid=S2176-62232025000100041&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[RESUMO As translocações são variantes estruturais simples do genoma, resultantes de quebras simultâneas em cromossomos diferentes, seguidas pela união incorreta de suas extremidades. Em alguns casos, podem interromper genes haploinsuficientes ou regiões reguladoras, originando fenótipos clínicos. Este relato descreve, até onde se tem conhecimento, o primeiro caso de translocação recíproca balanceada t(12;13) associada à inversão pericêntrica do cromossomo 9 em paciente com dismorfias. O caso refere-se a um paciente do sexo masculino, 6 anos e 3 meses de idade, segundo filho de casal não consanguíneo. No exame físico, foram observados pinçamento bitemporal, olhos profundamente implantados, discreto hipertelorismo ocular, orelhas baixas implantadas e simplificadas, macrostomia, prognatismo, língua protusa, clinodactilia do 5º quirodáctilo e pé plano. A análise citogenética revelou cariótipo 46, XY, inv(9)(p12q13), t(12;13)(q13;q12). A translocação foi confirmada pela técnica de hibridização in situ florescente usando sondas totais dos cromossomos 12 e 13 sinalizados com FITC (verde) e CY3 (vermelho), respectivamente. A hibridização genômica comparativa por microarranjo não mostrou perda ou ganho de material genético, indicando translocação balanceada. A caracterização detalhada dos pontos de quebra em rearranjos aparentemente balanceados é uma estratégia na busca de genes candidatos relacionados a fenótipos clínicos. Diante das dismorfias observadas, faz-se necessária a investigação de genes potencialmente envolvidos na gênese do quadro. Além disso, análises citogenéticas dos familiares, principalmente dos pais, são fundamentais para identificar a natureza do rearranjo, com finalidade de aconselhamento genético mais preciso.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT Translocations are simple structural variants of the genome, arising from simultaneous breaks in different chromosomes followed by incorrect rejoining of their ends. In some cases, they may disrupt haploinsufficient genes or regulatory regions, leading to clinical phenotypes. This report describes, to the best of our current knowledge, the first case of a balanced reciprocal translocation, t(12;13), associated with a pericentric inversion of chromosome 9 in a patient with dysmorphic features. The case involves a 6-year and 3-month-old male, the second child of a non-consanguineous couple. Physical examination revealed bitemporal narrowing, deep-set eyes, mild ocular hypertelorism, low-set and simplified ears, macrostomia, prognathism, protruding tongue, fifth finger clinodactyly, and flat feet. Cytogenetic analysis showed karyotype 46, XY, inv(9)(p12q13), t(12;13)(q13;q12). The translocation was confirmed by fluorescence in situ hybridization using whole-chromosome probes, where chromosome 12 was labeled with FITC (green) and chromosome 13 with CY3 (red). Comparative genomic hybridization by microarray revealed no loss or gain of genetic material, consistent with a balanced translocation. A detailed investigation of breakpoint regions in seemingly balanced rearrangements can provide important clues for identifying candidate genes linked to clinical phenotypes. Given the dysmorphisms observed, investigation of potentially involved genes is warranted. Additionally, cytogenetic studies of family members, particularly the parents, are crucial for determining the origin of the rearrangement and providing more accurate genetic counseling.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Cariótipo]]></kwd>
<kwd lng="pt"><![CDATA[Translocação Genética]]></kwd>
<kwd lng="pt"><![CDATA[Hibridização Genômica Comparativa]]></kwd>
<kwd lng="pt"><![CDATA[Anormalidades Congênitas]]></kwd>
<kwd lng="en"><![CDATA[Karyotype]]></kwd>
<kwd lng="en"><![CDATA[Genetic Translocation]]></kwd>
<kwd lng="en"><![CDATA[Comparative Genomic Hybridization]]></kwd>
<kwd lng="en"><![CDATA[Congenital Abnormalities]]></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[Li]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Roberts]]></surname>
<given-names><![CDATA[ND]]></given-names>
</name>
<name>
<surname><![CDATA[Wala]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Shapira]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Schumacher]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
<name>
<surname><![CDATA[Kumar]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Patterns of somatic structural variation in human cancer genomes]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2020</year>
<volume>578</volume>
<page-range>112-21</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[Meaburn]]></surname>
<given-names><![CDATA[KJ]]></given-names>
</name>
<name>
<surname><![CDATA[Misteli]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Soutoglou]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Spatial genome organization in the formation of chromosomal translocations]]></article-title>
<source><![CDATA[Semin Cancer Biol]]></source>
<year>2007</year>
<volume>17</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>80-90</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[Haveri&#263;]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Haveri&#263;]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Had&#382;i&#263;]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[&#262;etkovi&#263;]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Kla&#269;ar]]></surname>
<given-names><![CDATA[LC]]></given-names>
</name>
<name>
<surname><![CDATA[Had&#382;iselimovi&#263;]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Sporadic chromosome translocation frequencies in lymphocyte cultures - a retrospective study in a cohort of patients from Bosnia and Herzegovina]]></article-title>
<source><![CDATA[Med Glas (Zenica)]]></source>
<year>2022</year>
<volume>19</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Sudmant]]></surname>
<given-names><![CDATA[PH]]></given-names>
</name>
<name>
<surname><![CDATA[Rausch]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Gardner]]></surname>
<given-names><![CDATA[EJ]]></given-names>
</name>
<name>
<surname><![CDATA[Handsaker]]></surname>
<given-names><![CDATA[RE]]></given-names>
</name>
<name>
<surname><![CDATA[Abyzov]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Huddleston]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[An integrated map of structural variation in 2,504 human genomes]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2015</year>
<volume>526</volume>
<numero>7571</numero>
<issue>7571</issue>
<page-range>75-81</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[Sakofsky]]></surname>
<given-names><![CDATA[CJ]]></given-names>
</name>
<name>
<surname><![CDATA[Malkova]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Break induced replication in eukaryotes: mechanisms, functions, and consequences]]></article-title>
<source><![CDATA[Crit Rev Biochem Mol Biol]]></source>
<year>2017</year>
<volume>52</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>395-413</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[Kuroda]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Usui]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Sanjo]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Takeshima]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Kawahara]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Uemura]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic disorders and male infertility]]></article-title>
<source><![CDATA[Reprod Med Biol]]></source>
<year>2020</year>
<volume>19</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>314-22</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lindeman]]></surname>
<given-names><![CDATA[NI]]></given-names>
</name>
<name>
<surname><![CDATA[Fletcher]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Longtine]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Application of modern techniques]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Fletcher]]></surname>
<given-names><![CDATA[CDM]]></given-names>
</name>
</person-group>
<source><![CDATA[Diagnostic histopathology of tumors]]></source>
<year>2021</year>
<edition>5th</edition>
<page-range>2288e310</page-range><publisher-loc><![CDATA[Philadelphia ]]></publisher-loc>
<publisher-name><![CDATA[Elsevier]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Jia]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Mao]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Analysis of balanced reciprocal translocations in patients with subfertility using single&#8208;molecule optical mapping]]></article-title>
<source><![CDATA[J Assist Reprod Genet]]></source>
<year>2020</year>
<volume>37</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>509-16</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Forabosco]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Percesepe]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Santucci]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses]]></article-title>
<source><![CDATA[Eur J Hum Genet]]></source>
<year>2009</year>
<volume>17</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>897-903</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[Pal]]></surname>
<given-names><![CDATA[AK]]></given-names>
</name>
<name>
<surname><![CDATA[Ambulkar]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Waghmare]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
<name>
<surname><![CDATA[Wankhede]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Shende]]></surname>
<given-names><![CDATA[MR]]></given-names>
</name>
<name>
<surname><![CDATA[Tarnekar]]></surname>
<given-names><![CDATA[AM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Chromosomal aberrations in couples with pregnancy loss: a retrospective study]]></article-title>
<source><![CDATA[J Hum Reprod Sci]]></source>
<year>2018</year>
<volume>11</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>247-53</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chantot-Bastaraud]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ravel]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Siffroi]]></surname>
<given-names><![CDATA[JP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Underlying karyotype abnormalities in IVF/ICSI patients]]></article-title>
<source><![CDATA[Reprod Biomed Online]]></source>
<year>2008</year>
<volume>16</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>514-22</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Hofherr]]></surname>
<given-names><![CDATA[SE]]></given-names>
</name>
<name>
<surname><![CDATA[Wiktor]]></surname>
<given-names><![CDATA[AE]]></given-names>
</name>
<name>
<surname><![CDATA[Kipp]]></surname>
<given-names><![CDATA[BR]]></given-names>
</name>
<name>
<surname><![CDATA[Dawson]]></surname>
<given-names><![CDATA[DB]]></given-names>
</name>
<name>
<surname><![CDATA[Van Dyke]]></surname>
<given-names><![CDATA[DL]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience]]></article-title>
<source><![CDATA[J Assist Reprod Genet]]></source>
<year>2011</year>
<volume>28</volume>
<numero>11</numero>
<issue>11</issue>
<page-range>1091-8</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Chow]]></surname>
<given-names><![CDATA[JFC]]></given-names>
</name>
<name>
<surname><![CDATA[Cheng]]></surname>
<given-names><![CDATA[HHY]]></given-names>
</name>
<name>
<surname><![CDATA[Lau]]></surname>
<given-names><![CDATA[EYL]]></given-names>
</name>
<name>
<surname><![CDATA[Yeung]]></surname>
<given-names><![CDATA[WSB]]></given-names>
</name>
<name>
<surname><![CDATA[Ng]]></surname>
<given-names><![CDATA[EHY]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations]]></article-title>
<source><![CDATA[Genomics]]></source>
<year>2020</year>
<volume>112</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>494-500</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Saul]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
</person-group>
<source><![CDATA[Medical genetics in pediatric practice [Internet]]]></source>
<year>2013</year>
<publisher-loc><![CDATA[Itasca (IL) ]]></publisher-loc>
<publisher-name><![CDATA[American Academy of Pediatrics]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Boat]]></surname>
<given-names><![CDATA[TF]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[JT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Clinical characteristics of intellectual disabilities]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Boat]]></surname>
<given-names><![CDATA[TF]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[JT]]></given-names>
</name>
</person-group>
<source><![CDATA[Mental disorders and disabilities among low-income children]]></source>
<year>2015</year>
<page-range>169-78</page-range><publisher-loc><![CDATA[Washington (DC) ]]></publisher-loc>
<publisher-name><![CDATA[National Academies Press (US)]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[D&#8217;Arrigo]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Gavazzi]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Alfei]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Zuffardi]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Montomoli]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Corso]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children]]></article-title>
<source><![CDATA[J Child Neurol]]></source>
<year>2016</year>
<volume>31</volume>
<numero>6</numero>
<issue>6</issue>
<page-range>691-9</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Vickers]]></surname>
<given-names><![CDATA[RR]]></given-names>
</name>
<name>
<surname><![CDATA[Gibson]]></surname>
<given-names><![CDATA[JS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A review of the genomic analysis of children presenting with developmental delay/intellectual disability and associated dysmorphic features]]></article-title>
<source><![CDATA[Cureus]]></source>
<year>2019</year>
<volume>11</volume>
<numero>1</numero>
<issue>1</issue>
</nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wilch]]></surname>
<given-names><![CDATA[ES]]></given-names>
</name>
<name>
<surname><![CDATA[Morton]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Chromosome translocation]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<source><![CDATA[Adv Exp Med Biol]]></source>
<year>2018</year>
<volume>1044</volume>
<page-range>1-14</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lawce]]></surname>
<given-names><![CDATA[HJ]]></given-names>
</name>
<name>
<surname><![CDATA[Brown]]></surname>
<given-names><![CDATA[MG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Peripheral blood cytogenetic methods]]></article-title>
<person-group person-group-type="editor">
<name>
<surname><![CDATA[Arsham]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
<name>
<surname><![CDATA[Barch]]></surname>
<given-names><![CDATA[MJ]]></given-names>
</name>
<name>
<surname><![CDATA[Lawce]]></surname>
<given-names><![CDATA[HJ]]></given-names>
</name>
</person-group>
<source><![CDATA[The AGT cytogenetics laboratory manual]]></source>
<year>2017</year>
<edition>4th</edition>
<page-range>87-117</page-range><publisher-loc><![CDATA[Hoboken (NJ) ]]></publisher-loc>
<publisher-name><![CDATA[John Wiley &amp; Sons]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="book">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ozkan]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Lacerda]]></surname>
<given-names><![CDATA[MP]]></given-names>
</name>
</person-group>
<source><![CDATA[Genetics, cytogenetic testing and conventional karyotype [Internet]]]></source>
<year>2024</year>
<publisher-loc><![CDATA[Treasure Island (FL) ]]></publisher-loc>
<publisher-name><![CDATA[StatPearls Publishing]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Alhalabi]]></surname>
<given-names><![CDATA[MM]]></given-names>
</name>
<name>
<surname><![CDATA[Kakaje]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Alhalabi]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Hereditary chromosomal 9 inversion (p22q13) 9 as a cause for recurrent pregnancy loss: a case report]]></article-title>
<source><![CDATA[J Med Case Rep]]></source>
<year>2023</year>
<volume>17</volume>
<numero>1</numero>
<issue>1</issue>
<page-range>427</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Etem]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Hicran]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Olgu]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Selim]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Nazan]]></surname>
<given-names><![CDATA[EE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Association of pericentric inversion of chromosome 9 (inv[9][p11q13]) and genetic diseases: case report]]></article-title>
<source><![CDATA[Lab Med]]></source>
<year>2010</year>
<volume>41</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>96-8</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Rao]]></surname>
<given-names><![CDATA[BV]]></given-names>
</name>
<name>
<surname><![CDATA[Kerketta]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Korgaonkar]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Ghosh]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pericentric inversion of chromosome 9 [inv(9)(p12q13)]: its association with genetic diseases]]></article-title>
<source><![CDATA[Indian J Hum Genet]]></source>
<year>2006</year>
<volume>12</volume>
<numero>3</numero>
<issue>3</issue>
<page-range>129-32</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Miao]]></surname>
<given-names><![CDATA[ZY]]></given-names>
</name>
<name>
<surname><![CDATA[Liu]]></surname>
<given-names><![CDATA[XY]]></given-names>
</name>
<name>
<surname><![CDATA[Wu]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Hou]]></surname>
<given-names><![CDATA[XF]]></given-names>
</name>
<name>
<surname><![CDATA[Lv]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Cytogenetic analysis of 2959 couples with spontaneous abortion and detailed analysis of rare karyotypes]]></article-title>
<source><![CDATA[J Genet]]></source>
<year>2022</year>
<volume>101</volume>
<page-range>10</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25</label><nlm-citation citation-type="book">
<source><![CDATA[Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer [Internet]]]></source>
<year>2025</year>
<publisher-name><![CDATA[Mitelman F, Johansson B, Mertens F]]></publisher-name>
</nlm-citation>
</ref>
<ref id="B26">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ananthapur]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Avvari]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Cingeetham]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Maddireddi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Nallari]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Akka]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A novel chromosomal translocation and heteromorphism in a female with recurrent pregnancy loss &#8212; a case study]]></article-title>
<source><![CDATA[J Assist Reprod Genet]]></source>
<year>2012</year>
<volume>29</volume>
<numero>7</numero>
<issue>7</issue>
<page-range>651-6</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bommer]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Körner]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Familiäre balancierte chromosomentranslokation t(12;13) in einer familie mit mehreren missgebildeten totgeburten [Familial balanced chromosome translocation t(12;13) in a family with several deformed stillbirths]]]></article-title>
<source><![CDATA[Zentralbl Gynakol]]></source>
<year>1982</year>
<volume>104</volume>
<numero>24</numero>
<issue>24</issue>
<page-range>1578-83</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lavernia]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Claramunt]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Romero]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[López-Guerrero]]></surname>
<given-names><![CDATA[JA]]></given-names>
</name>
<name>
<surname><![CDATA[Llombart-Bosch]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Machado]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Soft tissue sarcomas with chromosomal alterations in the 12q13-15 region: differential diagnosis and therapeutic implications]]></article-title>
<source><![CDATA[Cancers (Basel)]]></source>
<year>2024</year>
<volume>16</volume>
<numero>2</numero>
<issue>2</issue>
<page-range>432</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>29</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Firth]]></surname>
<given-names><![CDATA[HV]]></given-names>
</name>
<name>
<surname><![CDATA[Richards]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
<name>
<surname><![CDATA[Bevan]]></surname>
<given-names><![CDATA[AP]]></given-names>
</name>
<name>
<surname><![CDATA[Clayton]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Corpas]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Rajan]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources]]></article-title>
<source><![CDATA[Am J Hum Genet]]></source>
<year>2009</year>
<volume>84</volume>
<numero>4</numero>
<issue>4</issue>
<page-range>524-33</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
