Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array:A case report  

作　　者：Işın Kaya 

机构地区：[1]Medical Genetics,Bakırçay UniversityÇiğli Education ve Training Hospital,İzmir 35620,Turkey

出　　处：《World Journal of Clinical Cases》2024年第8期1517-1522,共6页世界临床病例杂志

摘　　要：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.

关 键 词：Wolf-Hirschhorn syndrome Silver-Russell syndrome Recurrent rearrangements Case report 

分 类 号：R714.5[医药卫生—妇产科学]