Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis

Genet Couns. 2002;13(4):455-7.

Abstract

We report on a female patient who had mosaic trisomy 9, presenting with severe scoliosis and mental retardation. Scoliosis is seldom reported in patients with mosaic trisomy 9 syndrome. FISH studies in our proband detected no trisomic cell line in the paravertebral muscle.

Publication types

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

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Chromosomes, Human, Pair 9*
  • Humans
  • Karyotyping
  • Male
  • Mosaicism*
  • Scoliosis / genetics*
  • Trisomy*