title: A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency.
abstract: BACKGROUND
  Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.
  
  
  METHODS
  In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an interstitial microduplication at 18p11.31-p11.23 was identified by array-CGH. This maternally inherited microduplication, encompasses three genes, namelyARHGAP28,LINC00668andLAMA1(a gene involved in cerebellum and retinal development).
  
  
  CONCLUSIONS
  The genotype-phenotype is discussed with particular attention to theLAMA1gene, although it is difficult, as in many other similar situations, to assess the causality of the detected duplication in the absence of further studies aiming to explore the presence of co-occurring variants that could explain the incomplete penetrance.
authors.affiliation: Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Mara
authors.initials: M
authors.lastname: Giordano
authors.affiliation: Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Muratore
authors.affiliation: Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Deepak
authors.initials: D
authors.lastname: Babu
authors.affiliation: Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Meazza
authors.affiliation: Internal Medicine and Therapeutics Department, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Mauro
authors.identifier: 0000-0002-4882-3714
authors.initials: M
authors.lastname: Bozzola
keywords: 18p11.31-p11.23 microduplication; Chorioretinal coloboma; Deafness; Growth hormone deficiency; Hypoplasia of the cerebellar vermis