Partial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocations

Eur J Pediatr. 1988 Aug;147(6):645-8. doi: 10.1007/BF00442483.

Abstract

We report on an infant with partial tetrasomy of chromosome 9 due to the presence in her peripheral lymphocytes and in 55% of skin fibroblasts of an isochromosome 9 comprised of the p arm and of a portion of the q arm extending to band q21.1. The phenotype is comparable to that of other cases with a similar chromosome aberration, with multiple joint dislocations as a prominent manifestation.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / diagnostic imaging
  • Arthrogryposis / genetics*
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 9*
  • Dermatoglyphics
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Phenotype
  • Radiography