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 bo...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 hybrid-ization 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.展开更多
文摘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 hybrid-ization 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.
