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 leads to p25; this had previously been localised to segment p23 leads to pter.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Maraschio P,Danesino C,Garau A,Saputo V,Vigi V,Volpato Sdoi
10.1007/BF00286899subject
Has Abstractpub_date
1979-04-27 00:00:00pages
157-67issue
2eissn
0340-6717issn
1432-1203journal_volume
48pub_type
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