Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p

Am J Med Genet. 2000 Apr 24;91(5):383-6. doi: 10.1002/(sici)1096-8628(20000424)91:5<383::aid-ajmg12>3.0.co;2-g.

Abstract

We describe a child with a supernumerary chromosome defined as der(9)t(9;22) (q12;p11), resulting in trisomy 9p and trisomy 22p. The mother carried the balanced translocation. In G- and C-banding the derivative chromosome 9 appeared to be dicentric and to contain 22q material. Using in situ hybridization we defined the exact breakpoints of the translocation and ruled out the possibility of a centric fission in the mother's chromosomes.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 22*
  • Chromosomes, Human, Pair 9*
  • Female
  • Humans
  • Hypertelorism / genetics
  • In Situ Hybridization
  • Infant
  • Karyotyping
  • Microcephaly / genetics
  • Translocation, Genetic*
  • Trisomy*