title: Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia.
abstract: We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a duplicated segment on 15q25-26 chromosome region; further, array analyses revealed a small deletion (49 kb) at 11p13 region involving the ELP4 gene and a duplication at 8p23.1. Results were confirmed with both molecular and molecular cytogenetics techniques. Possibilities for etiological basis of clinical phenotype are discussed.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil.
authors.forename: Milena
authors.initials: M
authors.lastname: Simioni
authors.forename: Társis Paiva
authors.initials: TP
authors.lastname: Vieira
authors.forename: Ilária Cristina
authors.initials: IC
authors.lastname: Sgardioli
authors.forename: Erika Lopes
authors.initials: EL
authors.lastname: Freitas
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.forename: Cláudia Vianna
authors.initials: CV
authors.lastname: Maurer-Morelli
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: Agnes Cristina
authors.initials: AC
authors.lastname: Fett-Conte
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D015783:Aniridia / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D002898:Chromosomes, Human, Pair 8; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy