Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11

Stephanie Halford, Elizabeth Lindsay, Manimekalai Nayudu, Alisoun H. Carey, Antonio Baldini, Peter J. Scambler

Research output: Contribution to journalArticlepeer-review


DiGeorge syndrome and velo-cardio-facial syndrome are associated with deletions within 22q11. In attempting to refine the shortest region of overlap for these syndromes we have employed fluoresence in situ hybridisation. The results obtained for some probes indicate the presence of low-copy-number repeat families dispersed through proximal 22q. Several primate species have been examined for the presence or absence of two sequences mapping to pter-22q11. The results suggest a relatively recent evolutionary origin for these sequences and the loss of one sequence during the course of primate evolution.

Original languageEnglish
Pages (from-to)191-196
Number of pages6
JournalHuman Molecular Genetics
Issue number2
Publication statusPublished - Feb 1993

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)


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