title: Duplication 18p with mild influence on the phenotype.
abstract: Duplication 18p was found in a 12-year-old girl whose father carried a balanced translocation involving the same chromosome segment, t(18;21)(p11;p11). Our patient had delayed speech development, mild psychomotor retardation, epilepsy, and minor anomalies, including a low nasal bridge, anti-mongolian eye slant, low-set ears, and narrowly arched palate. These findings are compared with eight previously published cases.
authors.affiliation: Department of Clinical Genetics, University Hospital, Lund, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Johansson
authors.forename: F
authors.initials: F
authors.lastname: Mertens
authors.forename: L
authors.initials: L
authors.lastname: Palm
authors.forename: I
authors.initials: I
authors.lastname: Englesson
authors.forename: U
authors.initials: U
authors.lastname: Kristoffersson
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007621:Karyotyping; D005810:Multigene Family; D010641:Phenotype; D013064:Speech Disorders / Q000235:genetics; D014178:Translocation, Genetic