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Paracentric inversions in man.

Journal of Medical Genetics
Publication Date
  • Research Article
  • Medicine


We have reviewed 50 cases of paracentric inversions. Of these 34 were familial with 62 phenotypically normal carrier relatives. Twenty of the 50 were discovered fortuitously. There were two reports of children with easily recognised unbalanced karyotypes resulting from a paracentric inversion in one of the parents. The vast majority of paracentric inversions are harmless. The risk of abnormal children for paracentric inversion heterozygotes is low but increases with the finding of recurrent abortions or abnormal children or both in other carriers in the family. We emphasise the need for caution in interpreting the results of antenatal diagnosis because of the variety of unexpected unbalanced chromosome types that can result from a paracentric inversion, and the difficulty in recognising, with confidence, minute differences (for the detection of which very high resolution banding is required) between apparently similar parental and fetal inversions.

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