title: A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.
abstract: BACKGROUND
  Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies.
  
  
  RESULTS
  We report on a 3-year-old girl with a rare 2.9 Mb interstitial deletion at 13q12.11 due to a de novo unbalanced t(13;14) translocation. She had mild mental retardation and relatively mild dysmorphic features such as microcephaly, flat nasal bridge, moderate micrognathia and clinodactyly of 5(th) finger. Molecular karyotyping revealed a deletion on the long arm of chromosome 13 as involving sub-bands 13q12.11, a deletion of about 2.9 Mb.
  
  
  CONCLUSIONS
  The clinical application of array-CGH has made it possible to detect submicroscopical genomic rearrangements that are associated with varying phenotypes.The description of more patients with deletions of the 13q12.11 region will allow a more precise genotype-phenotype correlation.
authors.affiliation: Bioiatriki S.A., Laboratory of Genetics, Athens, Greece.
authors.forename: Magdalini
authors.initials: M
authors.lastname: Lagou
authors.affiliation: Eurogenetica S.A., Laboratory of Genetics, Michalakopoulou 125& Vervainon 14, 11527 Athens, Thessaloniki Greece.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papoulidis
authors.affiliation: Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.
authors.forename: Sandro
authors.initials: S
authors.lastname: Orru
authors.affiliation: Department of Obstetrics & Gynecology, University of Patra, Patra, Greece.
authors.forename: Vasileios
authors.initials: V
authors.lastname: Papadopoulos
authors.affiliation: 1st Department of Obstetrics & Gynecology, University of Athens, Athens, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Daskalakis
authors.affiliation: Eurogenetica S.A., Laboratory of Genetics, Michalakopoulou 125& Vervainon 14, 11527 Athens, Thessaloniki Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Kontodiou
authors.affiliation: Department of Gynecology, Naval Hospital of Athens, Athens, Greece.
authors.forename: Eleftherios
authors.initials: E
authors.lastname: Anastasakis
authors.affiliation: Department of Clinical Medicine, The Faculty of Medicine, Aalborg University Hospital, Aalborg, Denmark.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.affiliation: Department of Ophthalmology, University of Ioannina, Ioannina, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Kitsos
authors.affiliation: Developmental Assessment Unit, 2nd Department of Pediatrics, P. & A. Kyriakou Children's Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.
authors.forename: Loretta
authors.initials: L
authors.lastname: Thomaidis
authors.affiliation: Eurogenetica S.A., Laboratory of Genetics, Michalakopoulou 125& Vervainon 14, 11527 Athens, Thessaloniki Greece ; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
keywords: 13q12.11; Array-CGH; Deletion; Mild dysmorphic features