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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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June-2024 Volume 27 Issue 6

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Case Report

An asymptomatic male individual carrying a 5.72 Mb de novo deletion in 8p23.2‑p23.3: A case report

  • Authors:
    • Christina Keramida
    • Ioannis Papoulidis
    • Efterpi Pappa
    • Thomas Liehr
    • Konstantinos Kalmantis
    • Angeliki Gerede
    • Efterpi Pavlidou
    • Michael Bjorn Petersen
    • Emmanouil Manolakos
  • View Affiliations / Copyright

    Affiliations: Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece, University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07747 Jena, Germany, Department of Obstetric and Gynecological Ultrasound, IASO Maternity Hospital, 15123 Athens, Greece, Department of Obstetrics and Gynecology, Maternal‑Fetal Medicine, Democritus University of Thrace, 69100 Alexandroupolis, Greece, Department of Speech and Language Therapy, University of Ioannina, 45110 Ioannina, Greece
  • Article Number: 241
    |
    Published online on: April 3, 2024
       https://doi.org/10.3892/etm.2024.12529
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Abstract

Numerous rearrangements in the 8p23 chromosomal region have been reported; included in these rearrangements are isolated deletions in this area. Such deletions are associated with a wide range of phenotypic characteristics, including motor impairment, epilepsy, intellectual disability, cardiac defects and seizures. The present study describes the case of a 30‑year‑old asymptomatic man that carries a de novo deletion in 8p23.2‑p23.3. Molecular karyotyping indicated that the detected deletion involves genes that are in the critical region which is hypothesized to be responsible for the phenotypic characteristics associated with such deletions. The normal phenotype of the patient supports the hypothesis that there is incomplete penetrance of 8p23.2‑p23.3 deletions.
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Copy and paste a formatted citation
Spandidos Publications style
Keramida C, Papoulidis I, Pappa E, Liehr T, Kalmantis K, Gerede A, Pavlidou E, Petersen MB and Manolakos E: An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report. Exp Ther Med 27: 241, 2024.
APA
Keramida, C., Papoulidis, I., Pappa, E., Liehr, T., Kalmantis, K., Gerede, A. ... Manolakos, E. (2024). An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report. Experimental and Therapeutic Medicine, 27, 241. https://doi.org/10.3892/etm.2024.12529
MLA
Keramida, C., Papoulidis, I., Pappa, E., Liehr, T., Kalmantis, K., Gerede, A., Pavlidou, E., Petersen, M. B., Manolakos, E."An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report". Experimental and Therapeutic Medicine 27.6 (2024): 241.
Chicago
Keramida, C., Papoulidis, I., Pappa, E., Liehr, T., Kalmantis, K., Gerede, A., Pavlidou, E., Petersen, M. B., Manolakos, E."An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report". Experimental and Therapeutic Medicine 27, no. 6 (2024): 241. https://doi.org/10.3892/etm.2024.12529
Copy and paste a formatted citation
x
Spandidos Publications style
Keramida C, Papoulidis I, Pappa E, Liehr T, Kalmantis K, Gerede A, Pavlidou E, Petersen MB and Manolakos E: An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report. Exp Ther Med 27: 241, 2024.
APA
Keramida, C., Papoulidis, I., Pappa, E., Liehr, T., Kalmantis, K., Gerede, A. ... Manolakos, E. (2024). An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report. Experimental and Therapeutic Medicine, 27, 241. https://doi.org/10.3892/etm.2024.12529
MLA
Keramida, C., Papoulidis, I., Pappa, E., Liehr, T., Kalmantis, K., Gerede, A., Pavlidou, E., Petersen, M. B., Manolakos, E."An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report". Experimental and Therapeutic Medicine 27.6 (2024): 241.
Chicago
Keramida, C., Papoulidis, I., Pappa, E., Liehr, T., Kalmantis, K., Gerede, A., Pavlidou, E., Petersen, M. B., Manolakos, E."An asymptomatic male individual carrying a 5.72 Mb <em>de novo</em> deletion in 8p23.2‑p23.3: A case report". Experimental and Therapeutic Medicine 27, no. 6 (2024): 241. https://doi.org/10.3892/etm.2024.12529
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