Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.
- 1 April 1980
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (2) , 144-148
- https://doi.org/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.Keywords
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