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

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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.