Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)

Am J Med Genet. 1992 Sep 15;44(2):237-41. doi: 10.1002/ajmg.1320440223.


During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybi syndrome, an apparently balanced de novo reciprocal translocation, t(7;16)(q34;p13.3), was detected in an affected boy. The involvement of the region 16p13.3 coincides with the position of one of the breakpoints in another de novo reciprocal translocation associated with Rubinstein-Taybi syndrome, suggesting that a locus for this syndrome maps to 16p13.3.

Publication types

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

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16*
  • Chromosomes, Human, Pair 7
  • Humans
  • Male
  • Rubinstein-Taybi Syndrome / genetics*
  • Translocation, Genetic*