Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report

George Imataka, Yoshiyuki Watabe, Sayuri Kajitani, Shun Watanabe, Junko Ichikawa, Fabrizio Drago, Hiroshi Suzumura, Shigemi Yoshihara

Research output: Contribution to journalArticle


We report here a very rare case of de novo inversion-duplication chromosomal abnormality with a pure 3qter duplication syndrome. Interestingly, the 3q duplication includes an overlap of the syndrome's critical region. Although there have only been 9 cases of this syndrome reported in the past, our patient had more severe neurological abnormalities than anticipated. In this regard, we have gathered the 3q chromosomal duplication abnormalities known to cause pure 3q duplication syndrome to date as a reference for comparisons and we discuss the particulars of our case.

Original languageEnglish
Pages (from-to)3494-3496
Number of pages3
JournalExperimental and Therapeutic Medicine
Issue number6
Publication statusPublished - Jun 1 2017



  • 3q
  • Congenital anomaly
  • Duplication syndrome

ASJC Scopus subject areas

  • Immunology and Microbiology (miscellaneous)
  • Cancer Research

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