title: Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.
abstract: Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain.
authors.forename: Carolina
authors.initials: C
authors.lastname: Sanchez-Jimeno
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Bustamante-Aragonés
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Infantes-Barbero
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Rodriguez De Alba
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
authors.forename: María Jose
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.affiliation: Department of Genetics, Fundación Jimenez Díaz, Avda Reyes Católicos 2, Madrid, Spain ; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) Madrid, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Lorda-Sánchez
keywords: 16q Deletion CGH array; 17p duplication; MR/MCA syndromes; Potocki syndrome; Townes–Brocks syndrome; interstitial rearrangements; mental retardation