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.
Original language | English |
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Pages (from-to) | 157-167 |
Number of pages | 11 |
Journal | Human Genetics |
Volume | 48 |
Issue number | 2 |
DOIs | |
Publication status | Published - Jan 1979 |
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics