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Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome

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Abstract

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.

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Authors and Affiliations

  1. 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

    Évelin Aline Zanardo, Flavia Balbo Piazzon, Roberta Lelis Dutra, Alexandre Torchio Dias, Marília Moreira Montenegro, Gil Monteiro Novo-Filho, Thaís Virgínia Moura Machado Costa, Amom Mendes Nascimento & Leslie Domenici Kulikowski

  2. Department of Pediatrics, Instituto da Criança, LIM 36, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 647, 5° floor, Cerqueira César, São Paulo, SP, CEP: 05403-000, Brazil

    Évelin Aline Zanardo, Roberta Lelis Dutra, Marília Moreira Montenegro, Gil Monteiro Novo-Filho, Amom Mendes Nascimento, Chong Ae Kim & Leslie Domenici Kulikowski

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  1. Évelin Aline Zanardo
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  2. Flavia Balbo Piazzon
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  3. Roberta Lelis Dutra
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  4. Alexandre Torchio Dias
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  5. Marília Moreira Montenegro
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  6. Gil Monteiro Novo-Filho
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  7. Thaís Virgínia Moura Machado Costa
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  8. Amom Mendes Nascimento
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  9. Chong Ae Kim
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  10. Leslie Domenici Kulikowski
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Corresponding author

Correspondence to Leslie Domenici Kulikowski.

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Communicated by S. Hohmann.

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Zanardo, É.A., Piazzon, F.B., Dutra, R.L. et al. Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome. Mol Genet Genomics 289, 1037–1043 (2014). https://doi.org/10.1007/s00438-014-0876-7

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  • DOI: https://doi.org/10.1007/s00438-014-0876-7

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