Variants of chromosome 9 with additional euchromatic bands: two case reports

Am J Med Genet. 1996 Sep 6;64(4):536-8. doi: 10.1002/(SICI)1096-8628(19960906)64:4<536::AID-AJMG2>3.0.CO;2-N.

Abstract

This paper documents a prenatal case of maternally inherited subtle duplication of chromosome 9 bands q21.1 to q21.2 and a second case with two G-bands within the 9qh region. Cytogenetic studies of these cases included G-banding, C-banding, fluorescent in situ hybridization (FISH) using chromosome 9 specific library probe, and the classical satellite probe. In both patients, the additional bands were G-bands and C-band negative. By FISH studies they were negative for the satellite heterochromatin probe and positive for the chromosome 9 painting probe. Therefore, the extra bands were presumably euchromatin and part of chromosome 9. The chromosome 9 variants and their possible mechanisms of origin are discussed.

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosomes, Human, Pair 9 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence