Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 48 (2) , 157-167
- https://doi.org/10.1007/bf00286899
Abstract
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.This publication has 16 references indexed in Scilit:
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