title: Fetus with unbalanced translocation involving chromosomes 2 and 11.
abstract: We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene is discussed.
authors.affiliation: Regional Genetic Service, Manchester, UK.
authors.forename: A M
authors.initials: AM
authors.lastname: Norman
authors.forename: A P
authors.initials: AP
authors.lastname: Read
authors.forename: A
authors.initials: A
authors.lastname: Clark
authors.forename: J
authors.initials: J
authors.lastname: Haslam
authors.forename: D
authors.initials: D
authors.lastname: Donnai
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D014178:Translocation, Genetic; D014849:Waardenburg Syndrome / Q000235:genetics