PDF(Pubmed)
Abstract：
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.
METHODS: 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.
CONCLUSIONS: Genomic imbalances caused by NAHR in LCRs result in deletion and duplication syndromes.
METHODS: 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.
CONCLUSIONS: Genomic imbalances caused by NAHR in LCRs result in deletion and duplication syndromes.
摘要：
背景：片段重复或低拷贝重复（LCR）的非等位基因同源重组（NAHR）导致DNA的增加/丢失，并在基因组疾病的起源中起重要作用。
方法：对一个3岁男孩进行遗传分析。比较基因组杂交阵列分析显示，4p16.3染色体区域损失3776kb，11p15.5p15.4染色体区域增加3201kb。
结论：LCR中NAHR引起的基因组失衡导致缺失和重复综合征。
方法：对一个3岁男孩进行遗传分析。比较基因组杂交阵列分析显示，4p16.3染色体区域损失3776kb，11p15.5p15.4染色体区域增加3201kb。
结论：LCR中NAHR引起的基因组失衡导致缺失和重复综合征。
