title: Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation.
abstract: In this report we describe the identification of a de novo 46, XX, 13q + by multicolour fluorescence in situ hybridisation (M-FISH), as a partial distal 11q trisomy (11q23.1-->11qter). The clinical phenotype association with this distal 11q trisomy is briefly reviewed.
authors.affiliation: Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey.
authors.forename: G E
authors.initials: GE
authors.lastname: Utine
authors.forename: R
authors.initials: R
authors.lastname: Thoelen
authors.forename: H
authors.initials: H
authors.lastname: Peeters
authors.forename: J
authors.initials: J
authors.lastname: Vermeesch
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D014314:Trisomy / Q000235:genetics*