title: Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
abstract: BACKGROUND
  Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet.
  
  
  RESULTS
  We present a child with a 6q21q22.1 deletion, characterized by array-CGH, associated with developmental delay, intellectual disability, microcephaly, facial dysmorphisms, skeletal, muscle, and brain anomalies.
  
  
  CONCLUSIONS
  In our patient, the 6q21q22.1 deleted region contains ten genes (TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1) and two desert gene regions. We discuss here if these genes had some role in determining the phenotype of our patient in order to establish a possible karyotype/phenotype correlation.
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.goG.Gaslini 5, 16147 Genova, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.affiliation: Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Marisol
authors.initials: M
authors.lastname: Mirabelli-Badenier
authors.affiliation: Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Edvige
authors.initials: E
authors.lastname: Veneselli
authors.affiliation: Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy ; U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Aldamaria
authors.initials: A
authors.lastname: Puliti
authors.affiliation: U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Lerone
authors.affiliation: Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.
authors.forename: Carlotta Maria
authors.initials: CM
authors.lastname: Vaccari
authors.affiliation: Pediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Morana
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.goG.Gaslini 5, 16147 Genova, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Porta
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.goG.Gaslini 5, 16147 Genova, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, L.goG.Gaslini 5, 16147 Genova, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
keywords: 6q21q22.1; Array-CGH; Interstitial deletion; Karyotype/phenotype correlation; Poland syndrome