Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation
| Autor: | A. Roubergue, J. Milosevic, J.M. Dupont, Aurélie Coussement, L. El Khattabi, L. Cuisset, D. Doummar, Géraldine Viot, B. Flageul, D. Le Tessier, Aziza Lebbar |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Biology Polymorphism Single Nucleotide Intellectual Disability Genetics medicine Humans Abnormalities Multiple In Situ Hybridization Fluorescence Genetics (clinical) Chromosome Aberrations Isodisomy Comparative Genomic Hybridization Epilepsy Mechanism (biology) Inverted duplication Chromosome Karyotype medicine.disease Chromosomes Human Pair 1 Karyotyping Chromosome abnormality Female Homologous recombination Comparative genomic hybridization |
| Zdroj: | American Journal of Medical Genetics Part A. 164:3180-3186 |
| ISSN: | 1552-4825 |
| Popis: | Inverted duplications with terminal deletions are a well-defined family of complex rearrangements already observed for most of chromosome extremities. Several mechanisms have been suggested which could lead to their occurrence, either through non-homologous end joining, non-allelic homologous recombination, or more recently through an intrastrand fold-back mechanism. We describe here a patient with intellectual disability and pharmacoresistant epilepsy, for which array CGH analysis showed the first interstitial case of inverted duplication with deletion on chromosome 1p. Furthermore, SNP array analysis revealed an associated segmental isodisomy for the distal part of 1p, which led us to consider a replicative mechanism to explain this abnormality. This observation extends the range of this once telomeric rearrangement. |
| Databáze: | OpenAIRE |
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