通过比较基因组杂交阵列检测一名男孩的4p16.3缺失和11p15.5p15.4增益：病例报告
Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report.
作者信息
Kaya Işın
机构信息
Medical Genetics, Bakırçay University Çiğli Education ve Training Hospital, İzmir 35620, Turkey.
出版信息
World J Clin Cases. 2024 Mar 16;12(8):1517-1522. doi: 10.12998/wjcc.v12.i8.1517.
BACKGROUND
Nonallelic homologous recombination (NAHR) of segmental duplications or low copy repeats (LCRs) result in DNA gain/loss and play an important role in the origin of genomic disorders.
CASE SUMMARY
A 3-year- old boy was referred for genetic analysis. Comparative genomic hybridization array analysis revealed a loss of 3776 kb in the 4p16.3 chromosomal region and a gain of 3201 kb in the 11p15.5p15.4 chromosomal region.
CONCLUSION
Genomic imbalances caused by NAHR in LCRs result in deletion and duplication syndromes.
背景
节段性重复序列或低拷贝重复序列（LCRs）的非等位基因同源重组（NAHR）会导致DNA的增减，并在基因组疾病的起源中起重要作用。
病例摘要
一名3岁男孩被转诊进行基因分析。比较基因组杂交阵列分析显示，4p16.3染色体区域缺失3776 kb，11p15.5p15.4染色体区域增加3201 kb。
结论
LCRs中NAHR引起的基因组失衡导致缺失和重复综合征。
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