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

Autor: Keramida C; Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece., Papoulidis I; Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece., Pappa E; Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece., Liehr T; University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07747 Jena, Germany., Kalmantis K; Department of Obstetric and Gynecological Ultrasound, IASO Maternity Hospital, 15123 Athens, Greece., Gerede A; Department of Obstetrics and Gynecology, Maternal-Fetal Medicine, Democritus University of Thrace, 69100 Alexandroupolis, Greece., Pavlidou E; Department of Speech and Language Therapy, University of Ioannina, 45110 Ioannina, Greece., Petersen MB; Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece., Manolakos E; Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece.; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy.; Department of Biomedical Sciences, University of West Attica, 12243 Athens, Greece.
Jazyk: angličtina
Zdroj: Experimental and therapeutic medicine [Exp Ther Med] 2024 Apr 03; Vol. 27 (6), pp. 241. Date of Electronic Publication: 2024 Apr 03 (Print Publication: 2024).
DOI: 10.3892/etm.2024.12529
Abstrakt: 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.
Competing Interests: The authors declare that they have no competing interests.
(Copyright © 2024, Spandidos Publications.)
Databáze: MEDLINE
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