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Print ISSN: 1792-1074 Online ISSN: 1792-1082
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Case Report

Fanconi anemia in twins with neutropenia: A case report

  • Authors:
    • Wenjun Deng
    • Mingyi Zhao
    • Yingting Liu
    • Lizhi Cao
    • Minghua Yang
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China, Department of Pediatrics, The Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China
  • Pages: 5325-5330
    |
    Published online on: August 14, 2018
       https://doi.org/10.3892/ol.2018.9304
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Abstract

Fanconi anemia (FA) is a rare inherited disease caused by mutations in genes that are primarily involved in DNA damage response or repair. The disease is often characterized by congenital malformations, progressive bone marrow failure, abnormal skin pigmentation patterns and susceptibility to cancer. The present study describes a pair of 4‑year‑old male twins, both of whom had been suffering from upper respiratory tract infections for >2 years. There was no indication of discomfort including fever, coughing, bleeding or fatigue from either child when the upper respiratory tract infection disappeared. Physical examination of the twins did not reveal anything significant, and no external anomalies were observed. In order to obtain additional diagnostic evidence, next‑generation gene sequencing, chromosome breakage analysis and comet assays were performed. The results revealed double heterozygous mutations in the Fanconi Anemia Complementation Group D2 gene of the twins, therefore providing a conclusive diagnosis of FA. The case highlights how difficulties in clinical diagnosis may be overcome by including genetic screening tests into the range of diagnostic tests, which may also reveal unexpected results.
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Copy and paste a formatted citation
Spandidos Publications style
Deng W, Zhao M, Liu Y, Cao L and Yang M: Fanconi anemia in twins with neutropenia: A case report. Oncol Lett 16: 5325-5330, 2018.
APA
Deng, W., Zhao, M., Liu, Y., Cao, L., & Yang, M. (2018). Fanconi anemia in twins with neutropenia: A case report. Oncology Letters, 16, 5325-5330. https://doi.org/10.3892/ol.2018.9304
MLA
Deng, W., Zhao, M., Liu, Y., Cao, L., Yang, M."Fanconi anemia in twins with neutropenia: A case report". Oncology Letters 16.4 (2018): 5325-5330.
Chicago
Deng, W., Zhao, M., Liu, Y., Cao, L., Yang, M."Fanconi anemia in twins with neutropenia: A case report". Oncology Letters 16, no. 4 (2018): 5325-5330. https://doi.org/10.3892/ol.2018.9304
Copy and paste a formatted citation
x
Spandidos Publications style
Deng W, Zhao M, Liu Y, Cao L and Yang M: Fanconi anemia in twins with neutropenia: A case report. Oncol Lett 16: 5325-5330, 2018.
APA
Deng, W., Zhao, M., Liu, Y., Cao, L., & Yang, M. (2018). Fanconi anemia in twins with neutropenia: A case report. Oncology Letters, 16, 5325-5330. https://doi.org/10.3892/ol.2018.9304
MLA
Deng, W., Zhao, M., Liu, Y., Cao, L., Yang, M."Fanconi anemia in twins with neutropenia: A case report". Oncology Letters 16.4 (2018): 5325-5330.
Chicago
Deng, W., Zhao, M., Liu, Y., Cao, L., Yang, M."Fanconi anemia in twins with neutropenia: A case report". Oncology Letters 16, no. 4 (2018): 5325-5330. https://doi.org/10.3892/ol.2018.9304
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