title: Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).
abstract: We describe a girl with typical Rubinstein-Taybi syndrome with apparently balanced reciprocal translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a reciprocal translocation without visible deletion, karyotype: 46,XX, t(2;16)(p13.3;p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein-Taybi syndrome may be situated at 2p13.3 or 16p13.3.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
mesh_terms: D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic