Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)

Am J Med Genet. 1983 Dec;16(4):589-94. doi: 10.1002/ajmg.1320160416.

Abstract

A father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and S1. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes. We conclude that this may be a rare instance of an autosomal dominant condition associated with a balanced chromosome translocation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Cervical Vertebrae / abnormalities
  • Chromosome Banding
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Forearm / abnormalities*
  • Humans
  • Lumbosacral Region / abnormalities
  • Male
  • Pedigree
  • Syndrome
  • Translocation, Genetic*