De novo unbalanced translocation t(15;22)(q26.2;q12) with velo‑cardio‑facial syndrome: A case report and review of the literature

Gug,Cristina; Huțanu,Delia; Vaida,Monica; Doroş,Gabriela; Popa,Cristina; Stroescu,Ramona; Furău,Gheorghe; Furău,Cristian; Grigoriță,Laura; Mozos,Ioana

doi:10.3892/etm.2018.6609

De novo unbalanced translocation t(15;22)(q26.2;q12) with velo‑cardio‑facial syndrome: A case report and review of the literature

Authors:
- Cristina Gug
- Delia Huțanu
- Monica Vaida
- Gabriela Doroş
- Cristina Popa
- Ramona Stroescu
- Gheorghe Furău
- Cristian Furău
- Laura Grigoriță
- Ioana Mozos
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Affiliations: Department of Microscopic Morphology, Victor Babeș University of Medicine and Pharmacy, 300041 Timisoara, Romania, Department of Biology, Chemistry‑Biology‑Geography Faculty, West University Timisoara, 300115 Timisoara, Romania, Department of Anatomy and Embryology, Victor Babeș University of Medicine and Pharmacy, 300041 Timisoara, Romania, Department of Pediatrics, Victor Babeș University of Medicine and Pharmacy, 300041 Timisoara, Romania, Department of General Medicine, Faculty of Medicine, ‘Vasile Goldis’ Western University of Arad, 310118 Arad, Romania, Department of Life Sciences, Faculty of Medicine, ‘Vasile Goldis’ Western University of Arad, 310118 Arad, Romania, Department of Functional Sciences, Victor Babeș University of Medicine and Pharmacy, 300173 Timisoara, Romania
Published online on: August 16, 2018 https://doi.org/10.3892/etm.2018.6609
Pages: 3589-3595
Copyright: © Gug et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present study reports the case of a 3‑h old male with a de novo unbalanced t(15;22) translocation and velo‑cardio‑facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond‑shaped eyes, a long and wide nose, small and low‑set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G‑banding demonstrated a 45,XY,‑22,der (15),t(15;22)(q26.2;q12) karyotype. Fluorescent in situ hybridization with DiGeorge/VCFS TUPLE 1 confirmed 22q11 deletions. These cytogenetic aspects appear to be rare in the etiology of VCFS, as >1% of all 22q11 deletions are the result of an unbalanced translocation, which involves chromosomes 22 and another chromosome. To the best of our knowledge, this is the second reported case where the clinical features associated with VCFS are combined with an unbalanced (15;22) translocation involving the critical 22q11.2 region.

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