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Case Reports
. 1980 Apr;17(2):144-8.
doi: 10.1136/jmg.17.2.144.

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

J M Berg, H A Gardner, R J Gardner, E G Goh, V D Markovic, N E Simpson, R G Worton
Case Reports

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

J M Berg et al. J Med Genet. 1980 Apr.

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.

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