Department of Medical Genetics, Faculty of Medicine, Tokat Gaziosmanpasa University, Tokat, Türkiye.
Department of Medical Genetics, Ministry of Health Haseki Training and Research Hospital, Istanbul, Türkiye.
Mol Biol Rep. 2024 Apr 25;51(1):577. doi: 10.1007/s11033-024-09545-y.
Chromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The study aims to determine the clinical significance of chromosomal microarray analysis in this patient group. Another crucial aspect is the evaluation of copy number variants detected in terms of the diagnosis of patients.
A Chromosomal microarray analysis was was conducted on a total of 1227 patients and phenotype-associated etiological diagnosis was established in 135 patients. Phenotype-associated copy number variants were detected in 11% of patients. Among these, 77 patients 77 (57%, 77/135) were diagnosed with well-recognized genetic syndromes and phenotype-associated copy number variants were found in 58 patients (42.9%, 58/135). The study was designed to collect data of patients in Kocaeli Derince Training and Research Hospital retrospectively. In our study, we examined 135 cases with clinically significant copy number variability among all patients.
In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.
染色体微阵列分析是检测不明原因发育迟缓/智力障碍、自闭症谱系障碍和多发先天性畸形患者拷贝数变异的重要工具。本研究旨在确定染色体微阵列分析在该患者群体中的临床意义。另一个关键方面是评估所检测到的拷贝数变异对患者诊断的意义。
对总共 1227 名患者进行了染色体微阵列分析，并在 135 名患者中建立了表型相关的病因诊断。在 11%的患者中检测到与表型相关的拷贝数变异。其中，77 名患者（57%，77/135）被诊断为公认的遗传综合征，在 58 名患者（42.9%，58/135）中发现了与表型相关的拷贝数变异。本研究旨在回顾性收集科贾埃利德润奇培训与研究医院患者的数据。在本研究中，我们在所有患者中检查了 135 例具有明显临床意义的拷贝数可变性的病例。
在这项研究中，染色体微阵列分析揭示了具有新临床特征的致病性新生拷贝数变异。迄今为止，在土耳其人群中已报告了最大的患者队列的染色体微阵列分析。
