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Am J Med Genet. 1995 Sep 25;58(4):299-304.

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

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Department of Pediatrics, SUNY Health Science Center, Syracuse 13210, USA.


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.

[Indexed for MEDLINE]

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