Al-Hassnan Zuhair N, Albawardi Waad, Almutairi Faten, AlMass Rawan, AlBakheet Albandary, Mustafa Osama M, AlQuait Laila, Shinwari Zarghuna M A, Wakil Salma, Salih Mustafa A, Al-Fayyadh Majid, Hassan Saeed M, Aljoufan Mansour, Al-Nakhli Osima, Levy Brynn, AlMaarik Balsam, Al-Hakami Hana A, Alsagob Maysoon, Colak Dilek, Kaya Namik
1Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
2Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, Riyadh, 11211 Kingdom of Saudi Arabia.
Mol Cytogenet. 2018 Jan 25;11:9. doi: 10.1186/s13039-018-0356-6. eCollection 2018.
Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of microscope based standard karyotyping techniques copious CNVs and submicroscopic imbalances could not be detected in numerous CHD patients. The aim of our study is to identify cytogenetic abnormalities among the selected CHD cases ( = 17) of the cohort using high density oligo arrays.
Our screening study indicated that six patients (~35%) have various cytogenetic abnormalities. Among the patients, only patient 2 had a duplication whereas the rest carried various deletions. The patients 1, 4 and 6 have only single large deletions throughout their genome; a 3.2 Mb deletion on chromosome 7, a 3.35 Mb deletion on chromosome 3, and a 2.78 Mb a deletion on chromosome 2, respectively. Patients 3 and 5 have two deletions on different chromosomes. Patient 3 has deletions on chromosome 2 (2q24.1; 249 kb) and 16 (16q22.2; 1.8 Mb). Patient 4 has a 3.35 Mb an interstitial deletion on chromosome 3 (3q13.2q13.31).Based on our search on the latest available literature, our study is the first inclusive array CGH evaluation on Saudi cohort of CHD patients.
This study emphasizes the importance of the arrays in genetic diagnosis of CHD. Based on our results the high resolution arrays should be utilized as first-tier diagnostic tool in clinical care as suggested before by others. Moreover, previously evaluated negative CHD cases (based on standard karyotyping methods) should be re-examined by microarray based cytogenetic methods.
对先天性心脏病（CHD）患者进行快速基因诊断对于适当的医疗保健和管理非常重要。拷贝数变异（CNV）、染色体失衡和重排常与CHD相关。以前，由于基于显微镜的标准核型分析技术存在局限性，许多CHD患者无法检测到大量的CNV和亚显微失衡。我们研究的目的是使用高密度寡核苷酸阵列确定队列中选定的17例CHD病例中的细胞遗传学异常。
我们的筛查研究表明，6名患者（约35%）有各种细胞遗传学异常。在这些患者中，只有患者2有重复，其余患者有各种缺失。患者1、4和6在整个基因组中只有单个大的缺失；分别是7号染色体上3.2Mb的缺失、3号染色体上3.35Mb的缺失和2号染色体上2.78Mb的缺失。患者3和5在不同染色体上有两个缺失。患者3在2号染色体（2q24.1；249kb）和16号染色体（16q22.2；1.8Mb）上有缺失。患者4在3号染色体（3q13.2q13.31）上有一个3.35Mb的间质缺失。基于我们对最新文献的检索，我们的研究是对沙特CHD患者队列的首次全面阵列比较基因组杂交评估。
本研究强调了阵列在CHD基因诊断中的重要性。根据我们的结果，高分辨率阵列应如其他人之前所建议的那样，在临床护理中用作一线诊断工具。此外，以前评估为阴性的CHD病例（基于标准核型分析方法）应通过基于微阵列的细胞遗传学方法重新检查。
