Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin

Am J Med Genet. 1995 Sep 25;58(4):299-304. doi: 10.1002/ajmg.1320580402.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anaphase
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 10 / genetics*
  • Chromosomes, Human, Pair 7 / ultrastructure*
  • Chromosomes, Human, Pair 8 / ultrastructure*
  • Fatal Outcome
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Models, Genetic