title: De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.
abstract: A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype.
authors.affiliation: NE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Carter
authors.affiliation: Division B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
authors.forename: Melinda
authors.initials: M
authors.lastname: Zombor
authors.affiliation: Division B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
authors.forename: Adrienn
authors.initials: A
authors.lastname: Máté
authors.affiliation: Division B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
authors.affiliation: NE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.
authors.forename: Jonathan J
authors.initials: JJ
authors.lastname: Waters