Case Reports
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
- PMID: 6445984
- PMCID: PMC1048523
- DOI: 10.1136/jmg.17.2.144
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Case Reports
Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother
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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