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<records>
  <record>
    <language>eng</language>
    <publisher>Science and Education Publishing</publisher>
    <journalTitle>American Journal of Medical Sciences and Medicine</journalTitle>
    <eissn>2327-6657</eissn>
    <publicationDate>2014-11-27</publicationDate>
    <volume>2</volume>
    <issue>6</issue>
    <startPage>131</startPage>
    <endPage>133</endPage>
    <doi>10.12691/ajmsm-2-6-4</doi>
    <publisherRecordId>AJMSM2014264</publisherRecordId>
    <documentType>article</documentType>
    <title language="eng">Mosaic Double Aneuploidy with Edwards-Klinefelter Syndromes (48,XXY, +18/46XY)</title>
    <authors>
      <author>
        <name>Salil Vaniawala</name>
        <affiliationId>1</affiliationId>
      </author>
      <author>
        <name>Pankaj Gadhia</name>
        <email>pankajkgadhia@gmail.com</email>
        <affiliationId>1</affiliationId>
      </author>
    </authors>
    <affiliationsList>
      <affiliationName affiliationId="1">Molecular Cytogenetic Unit, S.N. Gene Laboratory and Research Centre, President Plaza-A, Near RTO circle, Surat, India</affiliationName>
    </affiliationsList>
    <abstract language="eng">Edward syndrome is rare in live births in comparison to most common Down and Patau syndromes. The estimated incidences are one in 6000 live births and interestingly 70 to 80% those affected are females. The occurrence of double aneuploidy involving XXY + 18 is very rare in live born however, most of cases are available with spontaneous abortions. Here, we report a 07 day a male infant with typical features of Edward syndrome such as microcephaly and low set of ears having mosaic double aneuploidy with Klinfelter syndrome.</abstract>
    <fullTextUrl format="pdf">http://pubs.sciepub.com/ajmsm/2/6/4/ajmsm-2-6-4.pdf</fullTextUrl>
    <keywords language="eng">
      <keyword>double aneuploidy</keyword>
      <keyword>mosaic</keyword>
      <keyword>Edward syndrome</keyword>
      <keyword>Klinfelter syndrome</keyword>
    </keywords>
  </record>
</records>