title: Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.
abstract: Structural alterations in chromosomes are a frequent cause of cancers and congenital diseases. Recently, the phenomenon of chromosome crisis, consisting of a set of tens to hundreds of clustered genomic rearrangements, localized in one or a few chromosomes, was described in cancer cells under the term chromothripsis. Better knowledge and recognition of this catastrophic chromosome event has brought to light two distinct entities, chromothripsis and chromoanasynthesis. The complexity of these rearrangements and the original descriptions in tumor cells initially led to the thought that it was an acquired anomaly. In fact, a few patients have been reported with constitutional chromothripsis or chromoanasynthesis. Using microarray we identified a very complex chromosomal rearrangement in a patient who had a cytogenetically visible rearrangement of chromosome 18. The rearrangement contained more than 15 breakpoints localized on a single chromosome. Our patient displayed intellectual disability, behavioral troubles and craniofacial dysmorphism. Interestingly, the succession of duplications and triplications identified in our patient was not clustered on a single chromosomal region but spread over the entire chromosome 18. In the light of this new spectrum of chromosomal rearrangements, this report outlines the main features of these catastrophic events and discusses the underlying mechanism of the complex chromosomal rearrangement identified in our patient, which is strongly evocative of a chromoanasynthesis.
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France. Electronic address: julieplaisancie@hotmail.fr.
authors.forename: Julie
authors.initials: J
authors.lastname: Plaisancié
authors.affiliation: Laboratoire Cerba, Département de Génétique Humaine, Saint-Ouen l'Aumône, France.
authors.forename: Pascale
authors.initials: P
authors.lastname: Kleinfinger
authors.affiliation: Service de Neuropédiatrie, Hôpital des Enfants, CHU Toulouse, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Cances
authors.affiliation: Laboratoire Cerba, Département de Génétique Humaine, Saint-Ouen l'Aumône, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Bazin
authors.affiliation: Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Julia
authors.affiliation: Laboratoire Cerba, Département de Génétique Humaine, Saint-Ouen l'Aumône, France.
authors.forename: Detlef
authors.initials: D
authors.lastname: Trost
authors.affiliation: Laboratoire Cerba, Département de Génétique Humaine, Saint-Ouen l'Aumône, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Lohmann
authors.affiliation: Laboratoire de Cytogénétique, Hôpital Purpan, CHU Toulouse, France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vigouroux
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D002887:Chromosomes, Human, Pair 18; D019465:Craniofacial Abnormalities / Q000235:genetics; D015321:Gene Rearrangement; D042822:Genomic Instability; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome
keywords: Chromoanasynthesis; Chromothripsis; Complex chromosomal rearrangement; FoSTes; MMBIR