title: Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.
abstract: BACKGROUND
  17q21.31 microduplication syndrome is a recently described condition associated with a broad clinical spectrum, of which psychomotor delay, behavioral disorders and poor social interaction seem to be the most consistent features. Only seven patients have been reported thus far. All have behavioral disorders reminiscent of the autistic spectrum with intellectual skills ranging from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features.
  
  
  METHODS
  Here we describe the segregation of 17q21.31 duplication in an Italian family.
  
  
  CONCLUSIONS
  Clinical features and genetic data are reported, and compared with previously reported patients with 17q21.31 microduplication. A comparison of clinical manifestations between deletion and duplication syndromes of the chromosome regione is provided.
authors.affiliation: UOD Genetica Medica, Fondazione IRCCS "Ca' Granda" Ospedale Maggiore Policlinico, Via Francesco Sforza 33, Milan, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Natacci
authors.affiliation: UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy. Electronic address: enrico.alfei@istituto-besta.it.
authors.forename: Enrico
authors.initials: E
authors.lastname: Alfei
authors.affiliation: UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Tararà
authors.affiliation: UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.affiliation: Medical Genetics, University of Pavia, Via Forlanini 6, Pavia, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.affiliation: UOD Genetica Medica, Fondazione IRCCS "Ca' Granda" Ospedale Maggiore Policlinico, Via Francesco Sforza 33, Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Gentilin
authors.affiliation: UO Neurologia dello Sviluppo, Dipartimento di Neuroscienze Pediatriche, IRCCS Fondazione Istituto Neurologico "Carlo Besta", Via Celoria 11, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Pantaleoni
mesh_terms: D058674:Chromosome Duplication / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
keywords: 17q21.31 microduplication; Autism spectrum disorder; Genetic syndrome; Intellectual disability; KANSL1; Psychomotor delay