Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)

Am J Med Genet. 1991 Mar 15;38(4):636-9. doi: 10.1002/ajmg.1320380430.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 16 / ultrastructure*
  • Chromosomes, Human, Pair 2 / ultrastructure*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Rubinstein-Taybi Syndrome / genetics*
  • Translocation, Genetic*