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Research Article
Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.
  1. J M Berg,
  2. H A Gardner,
  3. R J Gardner,
  4. E G Goh,
  5. V D Markovic,
  6. N E Simpson,
  7. R G Worton

    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.

    https://doi.org/10.1136/jmg.17.2.144

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