title: 8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp.
abstract: BACKGROUND
  A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems.
  
  
  RESULTS
  Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability.
  
  
  CONCLUSIONS
  The case indicates that genes within this interval, in particular dosage sensitive genes SOX7 and TNKS1, and possibly MIR124-1 and MIR598 as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome.
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392 Giessen, Germany.
authors.forename: Axel
authors.initials: A
authors.lastname: Weber
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392 Giessen, Germany.
authors.forename: Angelika
authors.initials: A
authors.lastname: Köhler
authors.affiliation: Klinik für Kinderneurologie und Sozialpädiatrie, Justus-Liebig-Universität, Giessen, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392 Giessen, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
keywords: 8p23.1; 8p23.1 duplication syndrome; Developmental delay; Intellectual disability; SNP array; SOX7; TNKS1