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A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region

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Abstract

Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region.

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Authors and Affiliations

  1. Institute of Human Genetics, University of Aarhus, DK-8000 Aarhus C, Denmark Tel.: +45-8949-4363; Fax: +45-8949-4370; e-mail: carsten@humgen.aau.dk, , , , , , DK

    C. A. Brandt, Johnny Hindkjær, Helle Strømkjær, Lars Bolund & Ursula Friedrich

  2. Department of Laboratory Medicine, Division of Molecular Cytometry, University of California San Francisco, San Francisco, Calif., USA, , , , , , US

    Daniel Pinkel

  3. Institut für Humangenetik, Universitätsklinikum, Hufelandstrasse 55, D-45122 Essen, Germany, , , , , , DE

    Hermann-Josef Lüdecke

  4. Department of Paediatrics, Aarhus University Hospital, Kommunehospitalet, Denmark, , , , , , DK

    Troels Herlin

Authors
  1. C. A. Brandt
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  2. Hermann-Josef Lüdecke
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  3. Johnny Hindkjær
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  4. Helle Strømkjær
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  5. Daniel Pinkel
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  6. Troels Herlin
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  7. Lars Bolund
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  8. Ursula Friedrich
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Received: 27 December 1996 / Accepted: 27 March 1997

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Brandt, C., Lüdecke, HJ., Hindkjær, J. et al. A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region. Hum Genet 100, 334–338 (1997). https://doi.org/10.1007/s004390050512

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  • DOI: https://doi.org/10.1007/s004390050512

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