Article
Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.
American journal of medical genetics. Part A - 1 Dec 2014
Milosevic J, El Khattabi L, Roubergue A, Coussement A, Doummar D, Cuisset L, Le Tessier D, Flageul B, Viot G, Lebbar A, Dupont J M
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Adult
- Chromosome Aberrations
- Chromosomes, Human, Pair 1
- Comparative Genomic Hybridization
- Epilepsy
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability