title: Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.
abstract: 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.
authors.affiliation: Faculté de Médecine, Laboratoire de Cytogénétique Constitutionnelle, Hôpital Cochin, APHP, Université Paris Descartes, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Milosevic
authors.forename: L
authors.initials: L
authors.lastname: El Khattabi
authors.forename: A
authors.initials: A
authors.lastname: Roubergue
authors.forename: A
authors.initials: A
authors.lastname: Coussement
authors.forename: D
authors.initials: D
authors.lastname: Doummar
authors.forename: L
authors.initials: L
authors.lastname: Cuisset
authors.forename: D
authors.initials: D
authors.lastname: Le Tessier
authors.forename: B
authors.initials: B
authors.lastname: Flageul
authors.forename: G
authors.initials: G
authors.lastname: Viot
authors.forename: A
authors.initials: A
authors.lastname: Lebbar
authors.forename: J M
authors.initials: JM
authors.lastname: Dupont
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D007621:Karyotyping; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
keywords: array CGH; chromosome abnormality; epilepsy; inverted duplication with deletion; mental retardation