title: Two novel deletions (array CGH findings) in pigment dispersion syndrome.
abstract: OBJECTIVE
  We report the first male with pigment dispersion syndrome and a balanced translocation t(10;15)(p11.1;q11.1).
  
  
  METHODS
  Cytogenetic analyses using Giemsa banding and FISH methods, and array CGH were performed.
  
  
  RESULTS
  Array CGH analyses did not show altered DNA sequences in the breakpoints of the translocation, but revealed two novel deletions in 2q22.1 and 18q22.1.
  
  
  CONCLUSIONS
  We suppose that the coexistence of t(10;15) and pigment dispersion syndrome in our patient is a coincidence. The deletion in 2q22.1, where the gene LRP1B has been located, may play a major role in the dysembryogenesis of the eye and cause the disorder.
authors.affiliation: Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia. ruth.mikelsaar@ut.ee
authors.forename: Ruth
authors.initials: R
authors.lastname: Mikelsaar
authors.forename: Harras
authors.initials: H
authors.lastname: Molder
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
authors.forename: Margus
authors.initials: M
authors.lastname: Punab
mesh_terms: D000328:Adult; D002879:Chromosomes, Human, Pair 10; D002884:Chromosomes, Human, Pair 15; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009693:Nucleic Acid Hybridization; D010857:Pigment Epithelium of Eye / Q000378:metabolism / Q000473:pathology*; D012168:Retinal Pigments / Q000378:metabolism*; D017384:Sequence Deletion; D014178:Translocation, Genetic
chemical_list: D012168:Retinal Pigments