Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3

Am J Med Genet. 1992 Sep 1;44(1):126-8. doi: 10.1002/ajmg.1320440134.


A two month-old girl was diagnosed as a case of Rubinstein-Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16: 46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported.

MeSH terms

  • Chromosome Banding
  • Chromosome Inversion
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6*
  • Female
  • Humans
  • Infant
  • Rubinstein-Taybi Syndrome / genetics*