title: Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.
abstract: BACKGROUND
  Despite the extensive use of chromosomal microarray technologies in patients with neurodevelopmental disorders has permitted the identification of an increasing number of causative submicroscopic rearrangements throughout the genome, constitutional duplications involving chromosome 1q22 have seldom been described in those patients.
  
  
  RESULTS
  We report on a pedigree with seven affected members showing varying degrees of behavioural and emotional disturbances including general anxiety disorder, mood disorders, and intellectual disability. Two adult female patients also showed late onset autoimmune inflammatory responses characterized by alopecia, skin ulcers secondary to inflammatory vasculitis, interstitial lung disease, and Raynaud's phenomenon. Array-CGH analysis identified in the affected individuals a 290 Kb microduplication in the chromosome 1q22. The rearrangement involves eleven known genes and is not present in the databases of polymorphic copy number variants.
  
  
  CONCLUSIONS
  The rearrangement segregates with the neurological clinical features observed in our patients, suggesting that dosage imbalance of one or more genes in this genomic region may lead to the observed phenotype. The association between the microduplication and the inflammatory disease is much less evident. Additional reported patients carrying similar microduplications are needed to clarify this aspect.
authors.affiliation: Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy ; Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.affiliation: Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Barone
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Grillo
authors.affiliation: Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.
authors.forename: Mariaclara
authors.initials: M
authors.lastname: De Grandi
authors.affiliation: Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: Fiore
authors.affiliation: Internal Medicine Unit, Garibaldi Hospital, Catania, Italy.
authors.forename: Ignazio
authors.initials: I
authors.lastname: Morana
authors.affiliation: Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Maniscalchi
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Mirella
authors.initials: M
authors.lastname: Vinci
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Silvestra
authors.initials: S
authors.lastname: Amata
authors.affiliation: Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Spalletta
authors.affiliation: Department of Clinical and Experimental Medicine, Pediatric Clinic, University of Catania, Catania, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Sorge
authors.affiliation: Department of Clinical and Experimental Medicine, Medical Angiology Unit, University of Catania, Catania, Italy.
authors.forename: Salvatore Santo
authors.initials: SS
authors.lastname: Signorelli
keywords: 1q22; CBCL dysregulation syndrome; CNV; Duplication; Inflammatory disease; Intellectual disability; LAMTOR2; LMNA; SEMA4A