Article Text

PDF

Paracentric inversions in man.
  1. K Madan,
  2. M Seabright,
  3. R H Lindenbaum,
  4. M Bobrow

    Abstract

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.