PDF(Pubmed)
Abstract：
Optical Genome Mapping (OGM) technology has garnered growing interest for the identification of chromosomal structural variations (SVs), particularly complex ones that are implicated in genetic diseases in humans. In this study, we performed genetic diagnostics on a neonatal patient who presented with feeding difficulties, hypotonia, and an atrial septal defect. We utilized a combination of trio-whole exome sequencing and OGM for our analysis. The results revealed an unbalanced translocation between maternal chromosomes 4 and 6 in the proband, ogm[GRch38]t(4:6)(q35.2;q25.3), resulting in a 2.8 Mb deletion at the 4q35 terminal and a 10.2 Mb duplication at the 6q25 terminal. In summary, this study highlights how OGM, in conjunction with other genetic approaches, can unveil the genetic etiology of complex clinical syndromes. Neonatal patients often exhibit low specific phenotypes, underlining the significance of SV detection.
摘要：
光学基因组作图（OGM）技术已经引起了人们对染色体结构变异（SV）鉴定的越来越多的兴趣，特别是与人类遗传疾病有关的复杂疾病。在这项研究中,我们对一名出现喂养困难的新生儿患者进行了基因诊断，低张力,和房间隔缺损.我们利用三全外显子组测序和OGM的组合进行分析。结果显示先证者中母体染色体4和6之间的易位不平衡，ogm[GRch38]t（4:6）（q35.2；q25.3），导致在4q35末端的2.8Mb删除和在6q25末端的10.2Mb复制。总之,这项研究强调了OGM，结合其他遗传方法，可以揭示复杂临床综合征的遗传病因。新生儿患者通常表现出低特异性表型，强调SV检测的重要性。
