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    <journal-meta>
      <journal-id journal-id-type="nlm-ta">J Reprod Infert</journal-id>
      <journal-id journal-id-type="publisher-id">arij001</journal-id>
      <journal-title-group>
        <journal-title>Journal of Reproduction &amp; Infertility</journal-title>
      </journal-title-group>
      <issn pub-type="ppub">2228-5482</issn>
      <issn pub-type="epub">2251-676X</issn>
      <publisher>
        <publisher-name>Avicenna Research Institute</publisher-name>
      </publisher>
    </journal-meta>

    <article-meta>
      <article-id pub-id-type="publisher-id">jri140211</article-id>
      <article-id pub-id-type="doi"></article-id>
      <article-id pub-id-type="pmid"></article-id>
      <article-categories>
        <subj-group subj-group-type="heading">
             <subject></subject> 
        </subj-group>
        <subj-group>
            <subject></subject>
        </subj-group> 
      </article-categories>
      <title-group>
        <article-title>Detection of Germline Mosaicism for Robertsonian Translocation 14;14: A Case Report</article-title>
      </title-group>
        <contrib-group><contrib contrib-type="author"><name><surname>Gonzalez</surname><given-names>Xavier</given-names></name></contrib><aff>Embryology Department, Aria Fertility, London, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Mora</surname><given-names>Francisca</given-names></name></contrib><aff>Embryology Department, Aria Fertility, London, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Arshad</surname><given-names>Falak</given-names></name></contrib><aff>Reproductive Genetics Department, Juno Genetics, Oxford, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Yiping</given-names></name></contrib><aff>Reproductive Genetics Department, Juno Genetics, Oxford, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Babariya</surname><given-names>Dhruti</given-names></name></contrib><aff>Reproductive Genetics Department, Juno Genetics, Oxford, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Wells</surname><given-names>Dagan</given-names></name></contrib><aff>Reproductive Genetics Department, Juno Genetics, Oxford, UK</aff></contrib-group><contrib-group><contrib contrib-type="author"><name><surname>Tozer</surname><given-names>Amanda</given-names></name></contrib><aff>Clinical Department, Aria Fertility, London, UK</aff></contrib-group>
      <pub-date pub-type="ppub">
        <day></day>
        <month></month>
        <year></year>
      </pub-date>
      <pub-date pub-type="epub">
        <day></day>
        <month></month>
        <year></year>
      </pub-date>
      <volume>25</volume>
      <issue>1</issue>
      <fpage>66</fpage>
      <lpage>72</lpage>
      <history>
        <date date-type="received">
          <day>9</day>
          <month>11</month>
          <year>2023</year>
        </date>
        <date date-type="accepted">
          <day>6</day>
          <month>1</month>
          <year>2024</year>
        </date>
      </history>
      <abstract>
      <p>
      &lt;p&gt;Background: Chromosomal structural rearrangements can lead to fertility prob-lems and recurrent miscarriages. The intricate interplay of genetics during hu-man development can lead to subtle anomalies that may affect reproduction.&lt;br /&gt;
Case Presentation: A 33-year-old woman sought fertility treatment after expe-riencing six miscarriages. Products of conception from the final pregnancy loss had been karyotyped, revealing a Robertsonian translocation (RT), involving chromosome 14. Fertility investigations showed low anti-Mullerian hormone (AMH) levels but otherwise normal female characteristics with normal sperm parameters of her husband were observed and both partners having a normal karyotype. Two embryos were transferred in an IVF cycle but neither resulted in a successful pregnancy. Subsequently, preimplantation genetic testing for an-euploidy (PGT-A) was applied to trophectoderm biopsy specimens from 4 em-bryos, which revealed abnormalities involving chromosome 14. Sperm aneu-ploidy testing failed to detect any increase in the incidence of aneuploidy af-fecting chromosome 14. Further embryos genetic testing indicated that all iden-tified chromosome 14 abnormalities in the embryos had a maternal (oocyte) origin.&lt;br /&gt;
Conclusion: This case underscores challenges in diagnosing and managing germline mosaicism in fertility. A maternal 14;14 Robertsonian translocation, undetected in the patient&amp;#39;s blood but impacting oocytes, likely explains recur-rent miscarriage and observed embryo aneuploidies. Genetic mosaicism in re-productive medicine highlights the necessity for advanced testing and personal-ized treatments. Data integration from various genetic analyses could enhance managing treatment expectations and improving fertility experiences.&lt;/p&gt;

      </p>
      </abstract>
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