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

Authors

  • Dr. Joe J. Hoo,

    Corresponding author
    1. Division of Genetics, Department of Pediatrics, SUNY Health Science Center, Syracuse, New York
    2. Rush Medical Laboratory and Department of Pediatrics, Rush-Presbyterian-St. Luke's Medical Center, Chicago, Illinois
    • Division of Genetics, Department of Pediatrics, SUNY Health Science Center, 750 E. Adams Street, Syracuse, NY 13210
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  • Margaret Chao,

    1. Departments of Pediatrics and Pathology, Cook County Hospital, Chicago, Illinois
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  • Katarina Szego,

    1. Rush Medical Laboratory and Department of Pediatrics, Rush-Presbyterian-St. Luke's Medical Center, Chicago, Illinois
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  • Mary Rauer,

    1. Rush Medical Laboratory and Department of Pediatrics, Rush-Presbyterian-St. Luke's Medical Center, Chicago, Illinois
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  • Susan C. Echiverri,

    1. Departments of Pediatrics and Pathology, Cook County Hospital, Chicago, Illinois
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  • Catherine Harris

    1. Departments of Pediatrics and Pathology, Cook County Hospital, Chicago, Illinois
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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. © 1995 Wiley-Liss, Inc.

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