Eissa Mariam M Al, Alotibi Raniah S, Alqahtani Amerh S, Aldriwesh Marwh G, Alismail Hanan, Asiri Nouf Y, Alabdulkareem Yara M
Department of Medicne, Medical School, AlFaisal University, Riyadh, Saudi Arabia.
Public Health Authority, Public Health Lab, Molecular Genetics Laboratory, Riyadh, Saudi Arabia.
Int J Health Sci (Qassim). 2024 Jul-Aug;18(4):70-77.
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.
染色体结构变异（SVs）与多种表型相关，是由于DNA复制过程中的中断而产生的，这可能会影响SV区域内的基因功能。本病例报告详细介绍了一名被诊断为神经发育迟缓的患者。通过阵列比较基因组杂交进行的详细调查发现，1号染色体上有两个致病性SVs，与1p36微缺失一致，以及2p35.3处的微重复，后者被归类为意义未明的变异。患者的临床表现与1p36缺失综合征一致，其特征为特定的发育迟缓及身体异常。进一步的基因分析表明，这些末端重排可能源于1号和2号染色体短臂之间的不平衡易位。本病例强调了解释多个并发SVs及其对表型的累积效应的复杂性。对此类染色体异常的持续研究将增进我们对其临床表现的理解，并指导更具针对性的治疗策略。
