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

  • Published online on: April 3, 2024     https://doi.org/10.3892/etm.2024.12529
  • Article Number: 241
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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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June-2024
Volume 27 Issue 6

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

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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