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

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

doi:10.3892/etm.2017.4416

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
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Affiliations: Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan, First Department of Surgery, Dokkyo Medical University, Tochigi 321-0293, Japan, Department of Pediatric Cardiology and Cardiac Surgery, Pediatric Cardiology and Cardiac Arrhythmias Complex Unit, Bambino Gesù Children's Hospital and Research Institute, I-00050 Rome, Italy
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.