title: Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.
abstract: BACKGROUND
  The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation.
  
  
  RESULTS
  A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia. G-banding chromosome analysis established the diagnosis of Angelman Syndrome resulting from a familial translocation t(10;15) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results: a coincidental and smaller 15q deletion, asymptomatic duplications in 15q11.2 and Xp22.31 regions.
  
  
  CONCLUSIONS
  This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone. Our report also expands two molecularly characterized rare patient cohorts: Angelman Syndrome patients due to familial translocations and patients with 15q11.2 duplications of paternal origin.
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C. Colonia Insurgentes Cuicuilco. Delegación Coyoacán C.P. 04530. México, D.F., México.
authors.forename: Emiy
authors.initials: E
authors.lastname: Yokoyama-Rebollar
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C. Colonia Insurgentes Cuicuilco. Delegación Coyoacán C.P. 04530. México, D.F., México.
authors.forename: Adriana
authors.initials: A
authors.lastname: Ruiz-Herrera
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C. Colonia Insurgentes Cuicuilco. Delegación Coyoacán C.P. 04530. México, D.F., México.
authors.forename: Esther
authors.initials: E
authors.lastname: Lieberman-Hernández
authors.affiliation: Departamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C. Colonia Insurgentes Cuicuilco. Delegación Coyoacán C.P. 04530. México, D.F., México.
authors.forename: Victoria
authors.initials: V
authors.lastname: Del Castillo-Ruiz
authors.affiliation: Laboratorio de Citogenética, Departamento de Genética Humana, Instituto Nacional de Pediatría, D.F., México.
authors.forename: Silvia
authors.initials: S
authors.lastname: Sánchez-Sandoval
authors.affiliation: Genetadi Biotech S.L., Bilbao, España.
authors.forename: Silvia M
authors.initials: SM
authors.lastname: Ávila-Flores
authors.affiliation: Genetadi Biotech S.L., Bilbao, España.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Castrillo
keywords: 15q11.2; Angelman Syndrome; Translocation; array CGH