ArticleMolecular genetics and genomics : MGG2014
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.
Article in Molecular genetics and genomics : MGG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- DNA methylation dysregulation patterns in the 1p36 region instability.Journal of applied genetics · 2025Article
- Chromoplexy: A Pathway to Genomic Complexity and Cancer Development.International journal of molecular sciences · 2025Review
- Enamel Structure Defects inBiomedicines · 2023Article
- A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions.Diagnostics (Basel, Switzerland) · 2022Article
- Chromoanagenesis Landscape in 10,000 TCGA Patients.Cancers · 2021Article
- Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops-A case report.Clinical case reports · 2019Article
- The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.American journal of human genetics · 2019Review
- Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Genome biology · 2017Article
- The Growing Complexity of the Monosomy 1p36 Syndrome.Molecular syndromology · 2016Article
- Human Structural Variation: Mechanisms of Chromosome Rearrangements.Trends in genetics : TIG · 2015Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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