Open Access

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

  • Authors:
    • George Imataka
    • Yoshiyuki Watabe
    • Sayuri Kajitani
    • Shun Watanabe
    • Junko Ichikawa
    • Fabrizio Drago
    • Hiroshi Suzumura
    • Shigemi Yoshihara
  • View Affiliations

  • Published online on: May 3, 2017     https://doi.org/10.3892/etm.2017.4416
  • Pages: 3494-3496
  • Copyright: © Imataka et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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.

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June-2017
Volume 13 Issue 6

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Imataka G, Watabe Y, Kajitani S, Watanabe S, Ichikawa J, Drago F, Suzumura H and Yoshihara S: Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report. Exp Ther Med 13: 3494-3496, 2017
APA
Imataka, G., Watabe, Y., Kajitani, S., Watanabe, S., Ichikawa, J., Drago, F. ... Yoshihara, S. (2017). Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report. Experimental and Therapeutic Medicine, 13, 3494-3496. https://doi.org/10.3892/etm.2017.4416
MLA
Imataka, G., Watabe, Y., Kajitani, S., Watanabe, S., Ichikawa, J., Drago, F., Suzumura, H., Yoshihara, S."Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report". Experimental and Therapeutic Medicine 13.6 (2017): 3494-3496.
Chicago
Imataka, G., Watabe, Y., Kajitani, S., Watanabe, S., Ichikawa, J., Drago, F., Suzumura, H., Yoshihara, S."Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report". Experimental and Therapeutic Medicine 13, no. 6 (2017): 3494-3496. https://doi.org/10.3892/etm.2017.4416