Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?

Clin Genet. 1997 May;51(5):357-60. doi: 10.1111/j.1399-0004.1997.tb02489.x.

Abstract

We report a child with a duplication-deficiency subsequent to t(15;20)(q25.2;p12.2), transmitted in at least 5 generations, who showed features of 15q- syndrome. We speculate that brachydactyly--most likely because of brachymesophalangism--is a feature of the phenotype of this chromosomal aberration and points to candidate gene(s) in this region. A similar brachydactyly was, however, reported with dup(20p1-pter).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 20*
  • Female
  • Fingers / abnormalities*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Radiography
  • Translocation, Genetic*