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. 1986 Jun;23(3):274–278. doi: 10.1136/jmg.23.3.274

Outcome after prenatal detection of a sporadic, unstable translocation t(5;21).

A O Martin, I Benuck, H S Traisman, M S Swanson, N Trakas, K Laing, B J Rosinsky, J Beaird, E S Traisman, S Elias, et al.
PMCID: PMC1049645  PMID: 3723562

Abstract

Amniotic fluid cultures from a 37 year old woman showed a sporadic 46,XX,t(5;21)(5qter----5p13 or p14::5pter----5p13 or p14::21p12----21qter) complement. In the majority of metaphases the 5p fragment was attached to the stalks of chromosome 21; however, in 9% of metaphases, the fragment was loosely attached by a 'thread' and in 6% it was completely detached. Silver staining and in situ hybridisation with a homologous ribosomal gene probe, which localises to stalk regions (nucleolar organisers, NOR) of human acrocentric chromosomes, failed to show a reciprocal exchange. Prognosis was uncertain because the possibility that the 5p fragment might have been lost in some cell lines could not be excluded. Nonetheless, the parents elected to continue the pregnancy. The translocation was confirmed in blood specimens obtained both at birth and at 1 year of age and showed similar instability. However, the proband shows no anomalies and is developing normally at 1 year.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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