Summary
After primary trisomy, “de novo” 21q21q trisomy is the most frequent chromosomal aberration responsible for Down syndrome. This rearrangement is more commonly referred to as a Robertsonian translocation or centric fusion product than as an isochromosome, e.g., t(21q;21q) instead of i(21q); however, in practice, it has not so far proved possible to distinguish between these alternatives. The aim of this work was to establish which of the two alternatives is acceptable.
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Grasso, M., Uzielli, M.L.G., Pierluigi, M. et al. Isochromosome not translocation in trisomy 21q21q. Hum Genet 84, 63–65 (1989). https://doi.org/10.1007/BF00210673
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DOI: https://doi.org/10.1007/BF00210673