title: Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
abstract: Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no patients with detailed molecular and clinical characterization of duplications restricted to this region have been published to date. We report on a 9-year-old girl with mild cognitive deficits, tall stature, macrocephaly and discrete dysmorphic features in whom a de novo interstitial 7.5 Mb duplication of 1q25.1q25.3 was detected by SNP array analysis (arr[hg19] 1q25.1q25.3(173,925,505-181,381,242)x3 dn). The duplicated region was inversely inserted into chromosome band 1q42.2: 46,XX,der(1)(pter→q42.2::q25.3→q25.1::q42.2→qter). Overexpression of one or several of the 87 genes in the duplicated interval was presumably the major causative factor for the clinical manifestations. Reports of additional patients with overlapping duplications will be needed to establish detailed karyotype-phenotype correlations and to gain a better understanding of the underlying pathomechanisms.
authors.affiliation: Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Kehrer
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Tanja
authors.initials: T
authors.lastname: Benkert
authors.forename: Sylke
authors.initials: S
authors.lastname: Singer
authors.forename: Ute
authors.initials: U
authors.lastname: Grasshoff
authors.forename: Karin
authors.initials: K
authors.lastname: Schaeferhoff
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.forename: Annette
authors.initials: A
authors.lastname: Weichselbaum
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype
keywords: LHX4; SNP array; dup1q25.1q25.3; tall stature; unbalanced inverted insertion