title: Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
abstract: We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality.
authors.affiliation: Citogenética, General Lab-Laboratoris d'Anàlisis, Barcelona, Spain.
authors.forename: Alberto
authors.initials: A
authors.lastname: Plaja
authors.forename: Elisabet
authors.initials: E
authors.lastname: Lloveras
authors.forename: Cristina
authors.initials: C
authors.lastname: Martinez-Bouzas
authors.forename: Beatriz
authors.initials: B
authors.lastname: Barreña
authors.forename: Miguel
authors.initials: M
authors.lastname: Del Campo
authors.forename: Asunción
authors.initials: A
authors.lastname: Fernández
authors.forename: Marta
authors.initials: M
authors.lastname: Herrero
authors.forename: Laura
authors.initials: L
authors.lastname: Barranco
authors.forename: Nuria
authors.initials: N
authors.lastname: Palau
authors.forename: M Asunción
authors.initials: MA
authors.lastname: López-Aríztegui
authors.forename: Vicenç
authors.initials: V
authors.lastname: Català
authors.forename: Maria-Isabel
authors.initials: MI
authors.lastname: Tejada
mesh_terms: D000293:Adolescent; D000328:Adult; D002503:Centromere; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics*
keywords: 18p trisomy; cytogenetics; intellectual disability; recurring chromosome abnormality; sSMC; small marker chromosome