title: De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome.
abstract: We describe a 3-month-old girl with Prader-Willi syndrome and a de novo unbalanced karyotype 45,XX,t(15;21)(q13;q22.3). This rearrangement, resulting in monosomy for the pericentromeric region of chromosome 15 and a virtual monosomy for the 21q distal band, had a paternal origin as demonstrated by Q and NOR staining.
authors.affiliation: Laboratorio di Citogenetica, Istituto G. Gaslini, Università di Genova, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Cuoco
authors.forename: M P
authors.initials: MP
authors.lastname: Bicocchi
authors.forename: D
authors.initials: D
authors.lastname: Granata
authors.forename: P
authors.initials: P
authors.lastname: Mezzano
authors.forename: G
authors.initials: G
authors.lastname: Serra
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic