| Autor: |
Zanardo ÉA; 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, evelinzanardo@yahoo.com.br., Piazzon FB, Dutra RL, Dias AT, Montenegro MM, Novo-Filho GM, Costa TV, Nascimento AM, Kim CA, Kulikowski LD |
| Jazyk: |
angličtina |
| Zdroj: |
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2014 Dec; Vol. 289 (6), pp. 1037-43. Date of Electronic Publication: 2014 Jul 02. |
| DOI: |
10.1007/s00438-014-0876-7 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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