Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother

J Med Genet. 1980 Apr;17(2):144-8. doi: 10.1136/jmg.17.2.144.

Abstract

A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions. The breakpoints on the chromosomes involved in the translocation were at the most distal end of the long arms (21q223). The phenotypically normal mother carried a rare variant of a chromosome 9.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, 21-22 and Y
  • Chromosomes, Human, 6-12 and X*
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Pedigree
  • Translocation, Genetic