Department of Pathology, Laboratório de Citogenômica, LIM 03, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 2° floor, block 12, Cerqueira César, São Paulo, SP, CEP: 05403-000, Brazil,
Mol Genet Genomics. 2014 Dec;289(6):1037-43. doi: 10.1007/s00438-014-0876-7. Epub 2014 Jul 2.
Genome rearrangements are caused by the erroneous repair of DNA double-strand breaks, leading to several alterations that result in loss or gain of the structural genomic of a dosage-sensitive genes. However, the mechanisms that promote the complexity of rearrangements of congenital or developmental defects in human disease are unclear. The investigation of complex genomic abnormalities could help to elucidate the mechanisms and causes for the formation and facilitate the understanding of congenital or developmental defects in human disease. We here report one case of a patient with atypical clinical features of the 1p36 syndrome and the use of cytogenomic techniques to characterize the genomic alterations. Analysis by multiplex ligation-dependent probe amplification and array revealed a complex rearrangement in the 1p36.3 region with deletions and duplication interspaced by normal sequences. We also suggest that chromoanagenesis could be a possible mechanism involved in the repair and stabilization of this rearrangement.
基因组重排是由 DNA 双链断裂错误修复引起的，导致几种改变，从而导致结构基因组的丢失或获得剂量敏感基因。然而，促进人类疾病中先天性或发育性缺陷的重排复杂性的机制尚不清楚。对复杂基因组异常的研究可以帮助阐明形成的机制和原因，并促进对人类疾病中先天性或发育性缺陷的理解。我们在这里报告了一例具有 1p36 综合征非典型临床特征的患者，并使用细胞基因组技术对基因组改变进行了特征描述。通过多重连接依赖性探针扩增和阵列分析发现，1p36.3 区域存在复杂的重排，缺失和重复交错排列正常序列。我们还提出，染色质发生可能是参与修复和稳定这种重排的一种可能机制。
