Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation

Paola Maraschio, C. Danesino, Angiolina Garau, V. Saputo, V. Vigi, S. Volpato

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)157-167
Number of pages11
JournalHuman Genetics
Volume48
Issue number2
DOIs
Publication statusPublished - Jan 1979

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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