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.
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。