title: Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.
abstract: BACKGROUND
  The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering to pieces and rebuilding of chromosomes in a random order. Congenital chromothripsis rearrangements often involve reciprocal rearrangements on multiple chromosomes and have been described as cause of contiguous gene syndromes. We hypothesize that chromothripsis could be responsible for known 9q21.13 microdeletion syndrome, causing a composite phenotype with additional features.
  
  
  METHODS
  The case reported is a 16- years-old female with a complex genomic rearrangement of chromosome 9 including the critical region of 9q21.13 microdeletion syndrome. The patient presents with platelet disorder and thyroid dysfunction in addition to the classical neurobehavioral phenotype of the syndrome.
  
  
  CONCLUSIONS
  The presence of multiple rearrangements on the same chromosome 9 and the rebuilding of chromosome in a random order suggested that the rearrangement could origin from an event of chromthripsis. To our knowledge this is the first report of congenital chromothripsis involving chromosome 9. Furthermore this is the only case of 9q21.13 microdeletion syndrome due to chromothripsis.
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Genesio
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Fontana
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Mormile
authors.affiliation: Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Casertano
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
authors.forename: Mariateresa
authors.initials: M
authors.lastname: Falco
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Conti
authors.affiliation: Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
authors.forename: Adriana
authors.initials: A
authors.lastname: Franzese
authors.affiliation: Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
authors.forename: Enza
authors.initials: E
authors.lastname: Mozzillo
authors.affiliation: Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.
authors.forename: Lucio
authors.initials: L
authors.lastname: Nitsch
authors.affiliation: Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
keywords: 9q21.13 deletion syndrome; Chromothripsis; GNAQ