Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome

James N. Macpherson, Greta Curtis, John A. Crolla, Nick Dennis, Barbara Migeon, Prabjit K. Grewal, Mark C. Hirst, Kay E. Davies, Patricia A. Jacobs

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


In a fragile X family referred for prenatal diagnosis, the female fetus did not inherit the full fragile X mutation from her mother, but an unexpected expansion within the normal range of CGG repeats from 29 to 39 was observed in the paternal X chromosome. Also, a rare recombination between DXS548 and FRAXAC1 was recorded in the maternal meiosis. Follow up of the neonate confirmed the same DNA genotype as in the CVS, but the child died of DiGeorge syndrome after four days and was subsequently found to carry a microdeletion of chromosome 22 using probe cEO. It is suggested that in this family the deletion of chromosome 22 is likely to be a chance event but the rare recombinant and the fragile X mutation might be causally related.

Original languageEnglish (US)
Pages (from-to)236-239
Number of pages4
JournalJournal of medical genetics
Issue number3
StatePublished - Mar 1995
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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