Breaking new ground: Exploring de novo chromosomal rearrangements in 1p36 microdeletion.

Autor: Eissa MMA; Department of Medicne, Medical School, AlFaisal University, Riyadh, Saudi Arabia.; Public Health Authority, Public Health Lab, Molecular Genetics Laboratory, Riyadh, Saudi Arabia., Alotibi RS; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Alqahtani AS; Department of Medical Genetics, King Saud Medical City, Riyadh, Saudi Arabia., Aldriwesh MG; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Alismail H; Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Asiri NY; Department of Anesthesia, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alabdulkareem YM; Department of Basic Sciences, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Jazyk: angličtina
Zdroj: International journal of health sciences [Int J Health Sci (Qassim)] 2024 Jul-Aug; Vol. 18 (4), pp. 70-77.
Abstrakt: Chromosomal structural variations (SVs) are linked to a wide range of phenotypes and arise due to disruptions during DNA replication, which can affect gene function within the SV regions. This case report details a patient diagnosed with neurodevelopmental delay. Detailed investigation through array comparative genomic hybridization revealed two pathogenic SVs on chromosome 1, which align with a 1p36 microdeletion, and a microduplication at 2p35.3, the latter being classified as a variant of unknown significance. The patient's clinical presentation is consistent with the 1p36 deletion syndrome, characterized by specific developmental delays and physical anomalies. Further genetic analysis suggests that these terminal rearrangements might stem from an unbalanced translocation between the short arms of chromosomes 1 and 2. This case underscores the complexity of interpreting multiple concurrent SVs and their cumulative effect on phenotype. Ongoing research into such chromosomal abnormalities will enhance our understanding of their clinical manifestations and guide more targeted therapeutic strategies.
Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright: © International Journal of Health Sciences.)
Databáze: MEDLINE
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