Summary
Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23→p25; this had previously been localised to segment p23→pter.
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Maraschio, P., Danesino, C., Garau, A. et al. Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation. Hum Genet 48, 157–167 (1979). https://doi.org/10.1007/BF00286899
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DOI: https://doi.org/10.1007/BF00286899