title: Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
abstract: BACKGROUND
  Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. Mutations in FOXL2, a gene located at 3q23, have been shown to cause the syndrome. We report a girl with BPES with a "de novo" apparently balanced translocation between chromosomes 3 and 15: t(3;15)(q23;q25).
  
  
  METHODS
  Conventional cytogenetic and CGH array were performed.
  
  
  RESULTS
  The karyotype showed an apparently balanced translocation. Molecular studies by array-CGH did not show deletions in the FOXL2 gene; however, a novel 63.2 kb deletion involving a non-protein-coding gene (PISRT1) was found.
  
  
  CONCLUSIONS
  The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with BPES. In cases of "de novo" apparently balanced translocation, only a 5-6% risk of phenotype alteration is described. Molecular studies can help to discover these alterations and provide insight for genetic counseling.
authors.affiliation: Department of Genetics, Megalab, Madrid, Spain. cgonzalezggen@yahoo.es
authors.forename: Cristina
authors.initials: C
authors.lastname: González-González
authors.forename: Maria
authors.initials: M
authors.lastname: García-Hoyos
authors.forename: Rosario
authors.initials: R
authors.lastname: Hernaez Calzón
authors.forename: Carolina
authors.initials: C
authors.lastname: Arroyo Díaz
authors.forename: Cristina
authors.initials: C
authors.lastname: González Fanego
authors.forename: Isabel
authors.initials: I
authors.lastname: Lorda Sánchez
authors.forename: Fernando
authors.initials: F
authors.lastname: Sánchez-Escribano
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D059785:Karyotype; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; C575111:PISRT1 non-protein coding RNA, human; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated