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Keywords:

  • inverted tandem duplication;
  • inverted terminal duplication;
  • terminal band;
  • telomeric deletion;
  • U-type reunion;
  • de novo duplication

Abstract

We present 4 recently diagnosed cases of inverted tandem duplication with involvement of the respective terminal band. Based on these 4 cases and review of the literature, the term “inverted terminal duplication” is proposed to designate specifically the type of inverted tandem duplication which involves the terminal band. A modification of the previous hypothesis of mechanism of origin is advanced. It is speculated further that a telomeric deletion of a meiotic chromosome followed by a U-type reunion of the chromatids, considered to be the first steps of the proposed mechanism of origin, may not be a rare gonadal event. © 1995 Wiley-Liss, Inc.