Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13

Am J Med Genet. 1997 Jan 10;68(1):70-3. doi: 10.1002/(sici)1096-8628(19970110)68:1<70::aid-ajmg13>3.0.co;2-l.

Abstract

We report on a male infant with tetramelic mirror-image polydactyly and a de novo, balanced reciprocal translocation between 2p23.3 and 14q13. This patient suggests that a novel gene, which functions in the morphogenesis of the hands and feet along the anterior-posterior axis, may be located at 2p23.3 or 14q13.

Publication types

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

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 2*
  • Fingers / abnormalities*
  • Humans
  • Infant, Newborn
  • Male
  • Polydactyly / genetics*
  • Toes / abnormalities*
  • Translocation, Genetic*